Canonical Allele Identifier: CA415178782

Gene: TAFAZZIN DNASE1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154411957G>C , CM000685.2:g.154411957G>C	GRCh38
NC_000023.10:g.153640294G>C , CM000685.1:g.153640294G>C	GRCh37
NC_000023.9:g.153293488G>C	NCBI36
NG_009634.1:g.5418G>C
NG_012884.2:g.5132C>G
NG_009634.2:g.5423G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000116.5:c.109+5G>C (TAFAZZIN) MANE Select	NP_000107.1:n.109+5G>C
ENST00000601016.6:c.109+5G>C (TAFAZZIN) MANE Select	ENSP00000469981.1:n.109+5G>C
NM_000116.4:c.109+5G>C (TAFAZZIN)	NP_000107.1:n.109+5G>C
NM_001009932.2:c.-497C>G (DNASE1L1)	NP_001009932.1:n.-497C>G
NM_001009932.3:c.-497C>G (DNASE1L1)	NP_001009932.1:n.-497C>G
NM_001009933.2:c.-239C>G (DNASE1L1)	NP_001009933.1:n.-239C>G
NM_001009933.3:c.-239C>G (DNASE1L1)	NP_001009933.1:n.-239C>G
NM_001009934.2:c.-154C>G (DNASE1L1)	NP_001009934.1:n.-154C>G
NM_001009934.3:c.-154C>G (DNASE1L1)	NP_001009934.1:n.-154C>G
NM_001303465.1:c.114G>C (TAFAZZIN)	NP_001290394.1:p.Glu38Asp
NM_001303465.2:c.114G>C (TAFAZZIN)	NP_001290394.1:p.Glu38Asp
NM_181311.3:c.109+5G>C (TAFAZZIN)	NP_851828.1:n.109+5G>C
NM_181311.4:c.109+5G>C (TAFAZZIN)	NP_851828.1:n.109+5G>C
NM_181312.3:c.109+5G>C (TAFAZZIN)	NP_851829.1:n.109+5G>C
NM_181312.4:c.109+5G>C (TAFAZZIN)	NP_851829.1:n.109+5G>C
NM_181313.3:c.109+5G>C (TAFAZZIN)	NP_851830.1:n.109+5G>C
NM_181313.4:c.109+5G>C (TAFAZZIN)	NP_851830.1:n.109+5G>C
NR_024048.2:n.435+5G>C (TAFAZZIN)
NR_024048.3:n.414+5G>C (TAFAZZIN)
ENST00000309585.9:c.-239C>G (DNASE1L1)	ENSP00000309168.5:n.-239C>G
ENST00000369776.8:c.114G>C (TAFAZZIN)	ENSP00000358791.4:p.Glu38Asp
ENST00000369809.5:c.-497C>G (DNASE1L1)	ENSP00000358824.1:n.-497C>G
ENST00000393638.5:c.-154C>G (DNASE1L1)	ENSP00000377255.1:n.-154C>G
ENST00000424626.5:c.-497C>G (DNASE1L1)	ENSP00000393000.1:n.-497C>G
ENST00000432135.1:c.-635C>G (DNASE1L1)	ENSP00000410281.1:n.-635C>G
ENST00000439735.2:c.109+5G>C (TAFAZZIN)	ENSP00000398193.1:n.109+5G>C
ENST00000451865.5:c.-154C>G (DNASE1L1)	ENSP00000393346.1:n.-154C>G
ENST00000475699.5:c.109+5G>C (TAFAZZIN)	ENSP00000419854.2:n.109+5G>C
ENST00000475699.6:c.114G>C (TAFAZZIN)	ENSP00000419854.3:p.Glu38Asp
ENST00000476800.2:n.74+5G>C (TAFAZZIN)
ENST00000601016.5:c.109+5G>C (TAFAZZIN)	ENSP00000469981.1:n.109+5G>C
ENST00000612012.4:c.114G>C (TAFAZZIN)	ENSP00000482070.1:p.Glu38Asp
ENST00000612012.5:c.109+5G>C (TAFAZZIN)	ENSP00000482070.2:n.109+5G>C
ENST00000612460.4:c.109+5G>C (TAFAZZIN)	ENSP00000481037.1:n.109+5G>C
ENST00000612460.5:c.109+5G>C (TAFAZZIN)	ENSP00000481037.1:n.109+5G>C
ENST00000613002.4:c.109+5G>C (TAFAZZIN)	ENSP00000478154.1:n.109+5G>C
ENST00000613634.4:n.429+5G>C (TAFAZZIN)
ENST00000614595.1:n.328+5G>C (TAFAZZIN)
ENST00000614595.2:n.339G>C (TAFAZZIN)
ENST00000615658.4:n.435+5G>C (TAFAZZIN)
ENST00000615658.5:n.373G>C (TAFAZZIN)
ENST00000615986.4:c.109+5G>C (TAFAZZIN)	ENSP00000480133.1:n.109+5G>C
ENST00000616020.4:c.114G>C (TAFAZZIN)	ENSP00000483636.1:p.Glu38Asp
ENST00000616020.5:c.114G>C (TAFAZZIN)	ENSP00000483636.2:p.Glu38Asp
ENST00000617701.4:c.109+5G>C (TAFAZZIN)	ENSP00000481645.1:n.109+5G>C
ENST00000617701.5:c.109+5G>C (TAFAZZIN)	ENSP00000481645.1:n.109+5G>C
ENST00000620808.4:c.109+5G>C (TAFAZZIN)	ENSP00000479311.1:n.109+5G>C
ENST00000621647.1:n.394+5G>C (TAFAZZIN)
ENST00000621647.2:n.162+5G>C (TAFAZZIN)
ENST00000652358.1:c.-57+5G>C (TAFAZZIN)	ENSP00000498464.1:n.-57+5G>C
ENST00000652476.1:n.270+5G>C (TAFAZZIN)
ENST00000652682.1:c.109+5G>C (TAFAZZIN)	ENSP00000498288.1:n.109+5G>C
ENST00000652685.1:n.161+5G>C (TAFAZZIN)
ENST00000698234.1:n.409G>C (TAFAZZIN)
ENST00000698235.1:n.96+5G>C (TAFAZZIN)
XM_005277829.3:c.-635C>G (DNASE1L1)	XP_005277886.1:n.-635C>G
XM_005277829.4:c.-635C>G (DNASE1L1)	XP_005277886.1:n.-635C>G
XM_006724836.1:c.114G>C (TAFAZZIN)	XP_006724899.1:p.Glu38Asp
XM_006724837.1:c.114G>C (TAFAZZIN)	XP_006724900.1:p.Glu38Asp
XM_006724839.1:c.114G>C (TAFAZZIN)	XP_006724902.1:p.Glu38Asp
XM_006724841.2:c.-186+5G>C (TAFAZZIN)	XP_006724904.1:n.-186+5G>C
XM_006724841.4:c.-186+5G>C (TAFAZZIN)	XP_006724904.1:n.-186+5G>C
XM_006724842.2:c.-186+5G>C (TAFAZZIN)	XP_006724905.1:n.-186+5G>C
XM_006724842.4:c.-186+5G>C (TAFAZZIN)	XP_006724905.1:n.-186+5G>C
XM_011531189.1:c.114G>C (TAFAZZIN)	XP_011529491.1:p.Glu38Asp
XM_017029332.1:c.-1693C>G (DNASE1L1)	XP_016884821.1:n.-1693C>G
XM_017029761.1:c.109+5G>C (TAFAZZIN)	XP_016885250.1:n.109+5G>C
XM_017029762.1:c.114G>C (TAFAZZIN)	XP_016885251.1:p.Glu38Asp
XM_017029763.1:c.109+5G>C (TAFAZZIN)	XP_016885252.1:n.109+5G>C
XM_017029765.2:c.-186+5G>C (TAFAZZIN)	XP_016885254.1:n.-186+5G>C
XM_024452431.1:c.114G>C (TAFAZZIN)	XP_024308199.1:p.Glu38Asp
XR_938511.1:n.417G>C (TAFAZZIN)