Canonical Allele Identifier: CA415179341

Gene: TAFAZZIN DNASE1L1

Linked Data

• ClinVar Variation Id: 2031230
• ClinVar RCV Id: RCV002867055
• MyVariant Identifiers: chrX:g.153640430G>A (hg19) ; chrX:g.154412093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412093G>A , CM000685.2:g.154412093G>A	GRCh38
NC_000023.10:g.153640430G>A , CM000685.1:g.153640430G>A	GRCh37
NC_000023.9:g.153293624G>A	NCBI36
NG_009634.1:g.5554G>A
NG_012884.2:g.4996C>T
NG_009634.2:g.5559G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.545G>A (TAFAZZIN)
ENST00000698235.1:n.104G>A (TAFAZZIN)
ENST00000698317.1:n.79G>A (TAFAZZIN)
ENST00000475699.6:c.171G>A (TAFAZZIN)	ENSP00000419854.3:p.Met57Ile
ENST00000476800.2:n.82G>A (TAFAZZIN)
ENST00000483674.3:n.8G>A (TAFAZZIN)
ENST00000601016.6:c.117G>A (TAFAZZIN) MANE Select	ENSP00000469981.1:p.Met39Ile
ENST00000612012.5:c.117G>A (TAFAZZIN)	ENSP00000482070.2:p.Met39Ile
ENST00000612460.5:c.117G>A (TAFAZZIN)	ENSP00000481037.1:p.Met39Ile
ENST00000614595.2:n.475G>A (TAFAZZIN)
ENST00000615658.5:n.430G>A (TAFAZZIN)
ENST00000616020.5:c.171G>A (TAFAZZIN)	ENSP00000483636.2:p.Met57Ile
ENST00000617701.5:c.117G>A (TAFAZZIN)	ENSP00000481645.1:p.Met39Ile
ENST00000621647.2:n.170G>A (TAFAZZIN)
ENST00000652358.1:c.-57+141G>A (TAFAZZIN)	ENSP00000498464.1:n.-57+141G>A
ENST00000652390.1:c.36G>A (TAFAZZIN)	ENSP00000498858.1:p.Met12Ile
ENST00000652476.1:n.278G>A (TAFAZZIN)
ENST00000652682.1:c.117G>A (TAFAZZIN)	ENSP00000498288.1:p.Met39Ile
ENST00000652685.1:n.169G>A (TAFAZZIN)
ENST00000309585.9:c.-375C>T (DNASE1L1)	ENSP00000309168.5:n.-375C>T
ENST00000369776.8:c.163+87G>A (TAFAZZIN)	ENSP00000358791.4:n.163+87G>A
ENST00000439735.2:c.117G>A (TAFAZZIN)	ENSP00000398193.1:p.Met39Ile
ENST00000475699.5:c.117G>A (TAFAZZIN)	ENSP00000419854.2:p.Met39Ile
ENST00000601016.5:c.117G>A (TAFAZZIN)	ENSP00000469981.1:p.Met39Ile
ENST00000612012.4:c.171G>A (TAFAZZIN)	ENSP00000482070.1:p.Met57Ile
ENST00000612460.4:c.117G>A (TAFAZZIN)	ENSP00000481037.1:p.Met39Ile
ENST00000613002.4:c.117G>A (TAFAZZIN)	ENSP00000478154.1:p.Met39Ile
ENST00000613634.4:n.437G>A (TAFAZZIN)
ENST00000614595.1:n.336G>A (TAFAZZIN)
ENST00000615658.4:n.443G>A (TAFAZZIN)
ENST00000615986.4:c.117G>A (TAFAZZIN)	ENSP00000480133.1:p.Met39Ile
ENST00000616020.4:c.171G>A (TAFAZZIN)	ENSP00000483636.1:p.Met57Ile
ENST00000617701.4:c.117G>A (TAFAZZIN)	ENSP00000481645.1:p.Met39Ile
ENST00000620808.4:c.117G>A (TAFAZZIN)	ENSP00000479311.1:p.Met39Ile
ENST00000621647.1:n.402G>A (TAFAZZIN)
NM_000116.4:c.117G>A (TAFAZZIN)	NP_000107.1:p.Met39Ile
NM_001303465.1:c.171G>A (TAFAZZIN)	NP_001290394.1:p.Met57Ile
NM_181311.3:c.117G>A (TAFAZZIN)	NP_851828.1:p.Met39Ile
NM_181312.3:c.117G>A (TAFAZZIN)	NP_851829.1:p.Met39Ile
NM_181313.3:c.117G>A (TAFAZZIN)	NP_851830.1:p.Met39Ile
NR_024048.2:n.443G>A (TAFAZZIN)
XM_006724836.1:c.171G>A (TAFAZZIN)	XP_006724899.1:p.Met57Ile
XM_006724837.1:c.171G>A (TAFAZZIN)	XP_006724900.1:p.Met57Ile
XM_006724839.1:c.171G>A (TAFAZZIN)	XP_006724902.1:p.Met57Ile
XM_006724841.2:c.-178G>A (TAFAZZIN)	XP_006724904.1:n.-178G>A
XM_006724842.2:c.-178G>A (TAFAZZIN)	XP_006724905.1:n.-178G>A
XM_011531189.1:c.171G>A (TAFAZZIN)	XP_011529491.1:p.Met57Ile
XR_938511.1:n.474G>A (TAFAZZIN)
XM_006724841.4:c.-178G>A (TAFAZZIN)	XP_006724904.1:n.-178G>A
XM_006724842.4:c.-178G>A (TAFAZZIN)	XP_006724905.1:n.-178G>A
XM_017029332.1:c.-1829C>T (DNASE1L1)	XP_016884821.1:n.-1829C>T
XM_017029761.1:c.117G>A (TAFAZZIN)	XP_016885250.1:p.Met39Ile
XM_017029762.1:c.171G>A (TAFAZZIN)	XP_016885251.1:p.Met57Ile
XM_017029763.1:c.117G>A (TAFAZZIN)	XP_016885252.1:p.Met39Ile
XM_017029765.2:c.-178G>A (TAFAZZIN)	XP_016885254.1:n.-178G>A
XM_024452431.1:c.171G>A (TAFAZZIN)	XP_024308199.1:p.Met57Ile
NM_000116.5:c.117G>A (TAFAZZIN) MANE Select	NP_000107.1:p.Met39Ile
NM_001009933.3:c.-375C>T (DNASE1L1)	NP_001009933.1:n.-375C>T
NM_001303465.2:c.171G>A (TAFAZZIN)	NP_001290394.1:p.Met57Ile
NM_181311.4:c.117G>A (TAFAZZIN)	NP_851828.1:p.Met39Ile
NM_181312.4:c.117G>A (TAFAZZIN)	NP_851829.1:p.Met39Ile
NM_181313.4:c.117G>A (TAFAZZIN)	NP_851830.1:p.Met39Ile
NR_024048.3:n.422G>A (TAFAZZIN)
NM_001009932.3:c.-633C>T (DNASE1L1)	NP_001009932.1:n.-633C>T
NM_001009934.3:c.-290C>T (DNASE1L1)	NP_001009934.1:n.-290C>T