Canonical Allele Identifier: CA10562282

Gene: TAFAZZIN DNASE1L1

Linked Data

• dbSNP Id: rs782760784
• ExAC: X:153640447 A / G
• gnomAD v2: X-153640447-A-G
• gnomAD v4: X-154412110-A-G
• MyVariant Identifiers: chrX:g.153640447A>G (hg19) ; chrX:g.154412110A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412110A>G , CM000685.2:g.154412110A>G	GRCh38
NC_000023.10:g.153640447A>G , CM000685.1:g.153640447A>G	GRCh37
NC_000023.9:g.153293641A>G	NCBI36
NG_009634.1:g.5571A>G
NG_012884.2:g.4979T>C
NG_009634.2:g.5576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.562A>G (TAFAZZIN)
ENST00000698235.1:n.121A>G (TAFAZZIN)
ENST00000698317.1:n.96A>G (TAFAZZIN)
ENST00000475699.6:c.188A>G (TAFAZZIN)	ENSP00000419854.3:p.His63Arg
ENST00000476800.2:n.99A>G (TAFAZZIN)
ENST00000483674.3:n.25A>G (TAFAZZIN)
ENST00000601016.6:c.134A>G (TAFAZZIN) MANE Select	ENSP00000469981.1:p.His45Arg
ENST00000612012.5:c.134A>G (TAFAZZIN)	ENSP00000482070.2:p.His45Arg
ENST00000612460.5:c.134A>G (TAFAZZIN)	ENSP00000481037.1:p.His45Arg
ENST00000614595.2:n.492A>G (TAFAZZIN)
ENST00000615658.5:n.447A>G (TAFAZZIN)
ENST00000616020.5:c.188A>G (TAFAZZIN)	ENSP00000483636.2:p.His63Arg
ENST00000617701.5:c.134A>G (TAFAZZIN)	ENSP00000481645.1:p.His45Arg
ENST00000621647.2:n.187A>G (TAFAZZIN)
ENST00000652358.1:c.-57+158A>G (TAFAZZIN)	ENSP00000498464.1:n.-57+158A>G
ENST00000652390.1:c.53A>G (TAFAZZIN)	ENSP00000498858.1:p.His18Arg
ENST00000652476.1:n.295A>G (TAFAZZIN)
ENST00000652682.1:c.134A>G (TAFAZZIN)	ENSP00000498288.1:p.His45Arg
ENST00000652685.1:n.186A>G (TAFAZZIN)
ENST00000309585.9:c.-392T>C (DNASE1L1)	ENSP00000309168.5:n.-392T>C
ENST00000369776.8:c.163+104A>G (TAFAZZIN)	ENSP00000358791.4:n.163+104A>G
ENST00000439735.2:c.134A>G (TAFAZZIN)	ENSP00000398193.1:p.His45Arg
ENST00000475699.5:c.134A>G (TAFAZZIN)	ENSP00000419854.2:p.His45Arg
ENST00000601016.5:c.134A>G (TAFAZZIN)	ENSP00000469981.1:p.His45Arg
ENST00000612012.4:c.188A>G (TAFAZZIN)	ENSP00000482070.1:p.His63Arg
ENST00000612460.4:c.134A>G (TAFAZZIN)	ENSP00000481037.1:p.His45Arg
ENST00000613002.4:c.134A>G (TAFAZZIN)	ENSP00000478154.1:p.His45Arg
ENST00000613634.4:n.454A>G (TAFAZZIN)
ENST00000614595.1:n.353A>G (TAFAZZIN)
ENST00000615658.4:n.460A>G (TAFAZZIN)
ENST00000615986.4:c.134A>G (TAFAZZIN)	ENSP00000480133.1:p.His45Arg
ENST00000616020.4:c.188A>G (TAFAZZIN)	ENSP00000483636.1:p.His63Arg
ENST00000617701.4:c.134A>G (TAFAZZIN)	ENSP00000481645.1:p.His45Arg
ENST00000620808.4:c.134A>G (TAFAZZIN)	ENSP00000479311.1:p.His45Arg
ENST00000621647.1:n.419A>G (TAFAZZIN)
NM_000116.4:c.134A>G (TAFAZZIN)	NP_000107.1:p.His45Arg
NM_001303465.1:c.188A>G (TAFAZZIN)	NP_001290394.1:p.His63Arg
NM_181311.3:c.134A>G (TAFAZZIN)	NP_851828.1:p.His45Arg
NM_181312.3:c.134A>G (TAFAZZIN)	NP_851829.1:p.His45Arg
NM_181313.3:c.134A>G (TAFAZZIN)	NP_851830.1:p.His45Arg
NR_024048.2:n.460A>G (TAFAZZIN)
XM_006724836.1:c.188A>G (TAFAZZIN)	XP_006724899.1:p.His63Arg
XM_006724837.1:c.188A>G (TAFAZZIN)	XP_006724900.1:p.His63Arg
XM_006724839.1:c.188A>G (TAFAZZIN)	XP_006724902.1:p.His63Arg
XM_006724841.2:c.-161A>G (TAFAZZIN)	XP_006724904.1:n.-161A>G
XM_006724842.2:c.-161A>G (TAFAZZIN)	XP_006724905.1:n.-161A>G
XM_011531189.1:c.188A>G (TAFAZZIN)	XP_011529491.1:p.His63Arg
XR_938511.1:n.491A>G (TAFAZZIN)
XM_006724841.4:c.-161A>G (TAFAZZIN)	XP_006724904.1:n.-161A>G
XM_006724842.4:c.-161A>G (TAFAZZIN)	XP_006724905.1:n.-161A>G
XM_017029761.1:c.134A>G (TAFAZZIN)	XP_016885250.1:p.His45Arg
XM_017029762.1:c.188A>G (TAFAZZIN)	XP_016885251.1:p.His63Arg
XM_017029763.1:c.134A>G (TAFAZZIN)	XP_016885252.1:p.His45Arg
XM_017029765.2:c.-161A>G (TAFAZZIN)	XP_016885254.1:n.-161A>G
XM_024452431.1:c.188A>G (TAFAZZIN)	XP_024308199.1:p.His63Arg
NM_000116.5:c.134A>G (TAFAZZIN) MANE Select	NP_000107.1:p.His45Arg
NM_001303465.2:c.188A>G (TAFAZZIN)	NP_001290394.1:p.His63Arg
NM_181311.4:c.134A>G (TAFAZZIN)	NP_851828.1:p.His45Arg
NM_181312.4:c.134A>G (TAFAZZIN)	NP_851829.1:p.His45Arg
NM_181313.4:c.134A>G (TAFAZZIN)	NP_851830.1:p.His45Arg
NR_024048.3:n.439A>G (TAFAZZIN)