Canonical Allele Identifier: CA255719

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 11105
• ClinVar RCV Id: RCV000011854 ; RCV003226156 ; RCV003333950
• dbSNP Id: rs132630277
• gnomAD v4: X-154420037-G-A
• MyVariant Identifiers: chrX:g.153648376G>A (hg19) ; chrX:g.154420037G>A (hg38)
• PubMed: PMID:8042670 ; PMID:9332651 ; PMID:9345098 ; PMID:9382096 ; PMID:9382097 ; PMID:10484795 ; PMID:19648820 ; PMID:20812380

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420037G>A , CM000685.2:g.154420037G>A	GRCh38
NC_000023.10:g.153648376G>A , CM000685.1:g.153648376G>A	GRCh37
NC_000023.9:g.153301570G>A	NCBI36
NG_009634.1:g.13500G>A
NG_009634.2:g.13503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1399G>A
ENST00000698317.1:n.2015G>A
ENST00000698318.1:n.1798G>A
ENST00000698319.1:n.1161G>A
ENST00000698320.1:n.1049G>A
ENST00000470127.2:n.1062G>A
ENST00000475699.6:c.553G>A	ENSP00000419854.3:p.Gly185Arg
ENST00000483674.3:n.471G>A
ENST00000601016.6:c.589G>A MANE Select	ENSP00000469981.1:p.Gly197Arg
ENST00000612012.5:c.547G>A	ENSP00000482070.2:p.Gly183Arg
ENST00000612460.5:c.499G>A	ENSP00000481037.1:p.Gly167Arg
ENST00000614595.2:n.1936G>A
ENST00000615658.5:n.1178G>A
ENST00000616020.5:c.601G>A	ENSP00000483636.2:p.Gly201Arg
ENST00000617701.5:c.*602G>A	ENSP00000481645.1:n.*602G>A
ENST00000652354.1:c.271G>A	ENSP00000498734.1:p.Gly91Arg
ENST00000652358.1:c.382G>A	ENSP00000498464.1:p.Gly128Arg
ENST00000652390.1:c.508G>A	ENSP00000498858.1:p.Gly170Arg
ENST00000652476.1:n.1255G>A
ENST00000652644.1:c.202G>A	ENSP00000498496.1:p.Gly68Arg
ENST00000652682.1:c.646G>A	ENSP00000498288.1:p.Gly216Arg
ENST00000652685.1:n.942G>A
ENST00000369776.8:c.382G>A	ENSP00000358791.4:p.Gly128Arg
ENST00000426231.5:c.586G>A
ENST00000439735.2:c.496G>A	ENSP00000398193.1:p.Gly166Arg
ENST00000470127.1:n.168G>A
ENST00000475699.5:c.547G>A	ENSP00000419854.2:p.Gly183Arg
ENST00000494912.5:n.1278G>A
ENST00000498029.1:n.47G>A
ENST00000601016.5:c.589G>A	ENSP00000469981.1:p.Gly197Arg
ENST00000612012.4:c.553G>A	ENSP00000482070.1:p.Gly185Arg
ENST00000612460.4:c.499G>A	ENSP00000481037.1:p.Gly167Arg
ENST00000613002.4:c.457G>A	ENSP00000478154.1:p.Gly153Arg
ENST00000613634.4:n.1104G>A
ENST00000615658.4:n.1278G>A
ENST00000615986.4:c.*317G>A	ENSP00000480133.1:n.*317G>A
ENST00000620808.4:c.*175G>A	ENSP00000479311.1:n.*175G>A
NM_000116.4:c.589G>A	NP_000107.1:p.Gly197Arg
NM_001303465.1:c.601G>A	NP_001290394.1:p.Gly201Arg
NM_181311.3:c.499G>A	NP_851828.1:p.Gly167Arg
NM_181312.3:c.547G>A	NP_851829.1:p.Gly183Arg
NM_181313.3:c.457G>A	NP_851830.1:p.Gly153Arg
NR_024048.2:n.931G>A
XM_006724836.1:c.643G>A	XP_006724899.1:p.Gly215Arg
XM_006724837.1:c.511G>A	XP_006724900.1:p.Gly171Arg
XM_006724839.1:c.511G>A	XP_006724902.1:p.Gly171Arg
XM_006724841.2:c.382G>A	XP_006724904.1:p.Gly128Arg
XM_006724842.2:c.292G>A	XP_006724905.1:p.Gly98Arg
XM_011531189.1:c.430G>A	XP_011529491.1:p.Gly144Arg
XM_011531190.1:c.382G>A	XP_011529492.1:p.Gly128Arg
XM_011531191.1:c.313G>A	XP_011529493.1:p.Gly105Arg
XM_011531192.1:c.310G>A	XP_011529494.1:p.Gly104Arg
XR_938511.1:n.937G>A
XM_006724841.4:c.382G>A	XP_006724904.1:p.Gly128Arg
XM_006724842.4:c.292G>A	XP_006724905.1:p.Gly98Arg
XM_011531191.2:c.313G>A	XP_011529493.1:p.Gly105Arg
XM_017029761.1:c.457G>A	XP_016885250.1:p.Gly153Arg
XM_017029762.1:c.553G>A	XP_016885251.1:p.Gly185Arg
XM_017029763.1:c.376G>A	XP_016885252.1:p.Gly126Arg
XM_017029764.1:c.310G>A	XP_016885253.1:p.Gly104Arg
XM_017029765.2:c.250G>A	XP_016885254.1:p.Gly84Arg
XM_024452431.1:c.430G>A	XP_024308199.1:p.Gly144Arg
NM_000116.5:c.589G>A MANE Select	NP_000107.1:p.Gly197Arg
NM_001303465.2:c.601G>A	NP_001290394.1:p.Gly201Arg
NM_181311.4:c.499G>A	NP_851828.1:p.Gly167Arg
NM_181312.4:c.547G>A	NP_851829.1:p.Gly183Arg
NM_181313.4:c.457G>A	NP_851830.1:p.Gly153Arg
NR_024048.3:n.910G>A