Canonical Allele Identifier: CA415184205

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506904
• ClinVar RCV Id: RCV003237273
• MyVariant Identifiers: chrX:g.153648396T>A (hg19) ; chrX:g.154420057T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420057T>A , CM000685.2:g.154420057T>A	GRCh38
NC_000023.10:g.153648396T>A , CM000685.1:g.153648396T>A	GRCh37
NC_000023.9:g.153301590T>A	NCBI36
NG_009634.1:g.13520T>A
NG_009634.2:g.13523T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1419T>A
ENST00000698317.1:n.2035T>A
ENST00000698318.1:n.1818T>A
ENST00000698319.1:n.1181T>A
ENST00000698320.1:n.1069T>A
ENST00000470127.2:n.1082T>A
ENST00000475699.6:c.573T>A	ENSP00000419854.3:p.Cys191Ter
ENST00000483674.3:n.491T>A
ENST00000601016.6:c.609T>A MANE Select	ENSP00000469981.1:p.Cys203Ter
ENST00000612012.5:c.567T>A	ENSP00000482070.2:p.Cys189Ter
ENST00000612460.5:c.519T>A	ENSP00000481037.1:p.Cys173Ter
ENST00000614595.2:n.1956T>A
ENST00000615658.5:n.1198T>A
ENST00000616020.5:c.621T>A	ENSP00000483636.2:p.Cys207Ter
ENST00000617701.5:c.*622T>A	ENSP00000481645.1:n.*622T>A
ENST00000652354.1:c.291T>A	ENSP00000498734.1:p.Cys97Ter
ENST00000652358.1:c.402T>A	ENSP00000498464.1:p.Cys134Ter
ENST00000652390.1:c.528T>A	ENSP00000498858.1:p.Cys176Ter
ENST00000652476.1:n.1275T>A
ENST00000652644.1:c.222T>A	ENSP00000498496.1:p.Cys74Ter
ENST00000652682.1:c.666T>A	ENSP00000498288.1:p.Cys222Ter
ENST00000652685.1:n.962T>A
ENST00000369776.8:c.402T>A	ENSP00000358791.4:p.Cys134Ter
ENST00000426231.5:c.606T>A
ENST00000439735.2:c.516T>A	ENSP00000398193.1:p.Cys172Ter
ENST00000470127.1:n.188T>A
ENST00000475699.5:c.567T>A	ENSP00000419854.2:p.Cys189Ter
ENST00000494912.5:n.1298T>A
ENST00000498029.1:n.67T>A
ENST00000601016.5:c.609T>A	ENSP00000469981.1:p.Cys203Ter
ENST00000612012.4:c.573T>A	ENSP00000482070.1:p.Cys191Ter
ENST00000612460.4:c.519T>A	ENSP00000481037.1:p.Cys173Ter
ENST00000613002.4:c.477T>A	ENSP00000478154.1:p.Cys159Ter
ENST00000615658.4:n.1298T>A
ENST00000615986.4:c.*337T>A	ENSP00000480133.1:n.*337T>A
ENST00000620808.4:c.*195T>A	ENSP00000479311.1:n.*195T>A
NM_000116.4:c.609T>A	NP_000107.1:p.Cys203Ter
NM_001303465.1:c.621T>A	NP_001290394.1:p.Cys207Ter
NM_181311.3:c.519T>A	NP_851828.1:p.Cys173Ter
NM_181312.3:c.567T>A	NP_851829.1:p.Cys189Ter
NM_181313.3:c.477T>A	NP_851830.1:p.Cys159Ter
NR_024048.2:n.951T>A
XM_006724836.1:c.663T>A	XP_006724899.1:p.Cys221Ter
XM_006724837.1:c.531T>A	XP_006724900.1:p.Cys177Ter
XM_006724839.1:c.531T>A	XP_006724902.1:p.Cys177Ter
XM_006724841.2:c.402T>A	XP_006724904.1:p.Cys134Ter
XM_006724842.2:c.312T>A	XP_006724905.1:p.Cys104Ter
XM_011531189.1:c.450T>A	XP_011529491.1:p.Cys150Ter
XM_011531190.1:c.402T>A	XP_011529492.1:p.Cys134Ter
XM_011531191.1:c.333T>A	XP_011529493.1:p.Cys111Ter
XM_011531192.1:c.330T>A	XP_011529494.1:p.Cys110Ter
XR_938511.1:n.957T>A
XM_006724841.4:c.402T>A	XP_006724904.1:p.Cys134Ter
XM_006724842.4:c.312T>A	XP_006724905.1:p.Cys104Ter
XM_011531191.2:c.333T>A	XP_011529493.1:p.Cys111Ter
XM_017029761.1:c.477T>A	XP_016885250.1:p.Cys159Ter
XM_017029762.1:c.573T>A	XP_016885251.1:p.Cys191Ter
XM_017029763.1:c.396T>A	XP_016885252.1:p.Cys132Ter
XM_017029764.1:c.330T>A	XP_016885253.1:p.Cys110Ter
XM_017029765.2:c.270T>A	XP_016885254.1:p.Cys90Ter
XM_024452431.1:c.450T>A	XP_024308199.1:p.Cys150Ter
NM_000116.5:c.609T>A MANE Select	NP_000107.1:p.Cys203Ter
NM_001303465.2:c.621T>A	NP_001290394.1:p.Cys207Ter
NM_181311.4:c.519T>A	NP_851828.1:p.Cys173Ter
NM_181312.4:c.567T>A	NP_851829.1:p.Cys189Ter
NM_181313.4:c.477T>A	NP_851830.1:p.Cys159Ter
NR_024048.3:n.930T>A