Canonical Allele Identifier: CA415184187

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648394T>A (hg19) ; chrX:g.154420055T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420055T>A , CM000685.2:g.154420055T>A	GRCh38
NC_000023.10:g.153648394T>A , CM000685.1:g.153648394T>A	GRCh37
NC_000023.9:g.153301588T>A	NCBI36
NG_009634.1:g.13518T>A
NG_009634.2:g.13521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1417T>A
ENST00000698317.1:n.2033T>A
ENST00000698318.1:n.1816T>A
ENST00000698319.1:n.1179T>A
ENST00000698320.1:n.1067T>A
ENST00000470127.2:n.1080T>A
ENST00000475699.6:c.571T>A	ENSP00000419854.3:p.Cys191Ser
ENST00000483674.3:n.489T>A
ENST00000601016.6:c.607T>A MANE Select	ENSP00000469981.1:p.Cys203Ser
ENST00000612012.5:c.565T>A	ENSP00000482070.2:p.Cys189Ser
ENST00000612460.5:c.517T>A	ENSP00000481037.1:p.Cys173Ser
ENST00000614595.2:n.1954T>A
ENST00000615658.5:n.1196T>A
ENST00000616020.5:c.619T>A	ENSP00000483636.2:p.Cys207Ser
ENST00000617701.5:c.*620T>A	ENSP00000481645.1:n.*620T>A
ENST00000652354.1:c.289T>A	ENSP00000498734.1:p.Cys97Ser
ENST00000652358.1:c.400T>A	ENSP00000498464.1:p.Cys134Ser
ENST00000652390.1:c.526T>A	ENSP00000498858.1:p.Cys176Ser
ENST00000652476.1:n.1273T>A
ENST00000652644.1:c.220T>A	ENSP00000498496.1:p.Cys74Ser
ENST00000652682.1:c.664T>A	ENSP00000498288.1:p.Cys222Ser
ENST00000652685.1:n.960T>A
ENST00000369776.8:c.400T>A	ENSP00000358791.4:p.Cys134Ser
ENST00000426231.5:c.604T>A
ENST00000439735.2:c.514T>A	ENSP00000398193.1:p.Cys172Ser
ENST00000470127.1:n.186T>A
ENST00000475699.5:c.565T>A	ENSP00000419854.2:p.Cys189Ser
ENST00000494912.5:n.1296T>A
ENST00000498029.1:n.65T>A
ENST00000601016.5:c.607T>A	ENSP00000469981.1:p.Cys203Ser
ENST00000612012.4:c.571T>A	ENSP00000482070.1:p.Cys191Ser
ENST00000612460.4:c.517T>A	ENSP00000481037.1:p.Cys173Ser
ENST00000613002.4:c.475T>A	ENSP00000478154.1:p.Cys159Ser
ENST00000615658.4:n.1296T>A
ENST00000615986.4:c.*335T>A	ENSP00000480133.1:n.*335T>A
ENST00000620808.4:c.*193T>A	ENSP00000479311.1:n.*193T>A
NM_000116.4:c.607T>A	NP_000107.1:p.Cys203Ser
NM_001303465.1:c.619T>A	NP_001290394.1:p.Cys207Ser
NM_181311.3:c.517T>A	NP_851828.1:p.Cys173Ser
NM_181312.3:c.565T>A	NP_851829.1:p.Cys189Ser
NM_181313.3:c.475T>A	NP_851830.1:p.Cys159Ser
NR_024048.2:n.949T>A
XM_006724836.1:c.661T>A	XP_006724899.1:p.Cys221Ser
XM_006724837.1:c.529T>A	XP_006724900.1:p.Cys177Ser
XM_006724839.1:c.529T>A	XP_006724902.1:p.Cys177Ser
XM_006724841.2:c.400T>A	XP_006724904.1:p.Cys134Ser
XM_006724842.2:c.310T>A	XP_006724905.1:p.Cys104Ser
XM_011531189.1:c.448T>A	XP_011529491.1:p.Cys150Ser
XM_011531190.1:c.400T>A	XP_011529492.1:p.Cys134Ser
XM_011531191.1:c.331T>A	XP_011529493.1:p.Cys111Ser
XM_011531192.1:c.328T>A	XP_011529494.1:p.Cys110Ser
XR_938511.1:n.955T>A
XM_006724841.4:c.400T>A	XP_006724904.1:p.Cys134Ser
XM_006724842.4:c.310T>A	XP_006724905.1:p.Cys104Ser
XM_011531191.2:c.331T>A	XP_011529493.1:p.Cys111Ser
XM_017029761.1:c.475T>A	XP_016885250.1:p.Cys159Ser
XM_017029762.1:c.571T>A	XP_016885251.1:p.Cys191Ser
XM_017029763.1:c.394T>A	XP_016885252.1:p.Cys132Ser
XM_017029764.1:c.328T>A	XP_016885253.1:p.Cys110Ser
XM_017029765.2:c.268T>A	XP_016885254.1:p.Cys90Ser
XM_024452431.1:c.448T>A	XP_024308199.1:p.Cys150Ser
NM_000116.5:c.607T>A MANE Select	NP_000107.1:p.Cys203Ser
NM_001303465.2:c.619T>A	NP_001290394.1:p.Cys207Ser
NM_181311.4:c.517T>A	NP_851828.1:p.Cys173Ser
NM_181312.4:c.565T>A	NP_851829.1:p.Cys189Ser
NM_181313.4:c.475T>A	NP_851830.1:p.Cys159Ser
NR_024048.3:n.928T>A