Canonical Allele Identifier: CA415184188

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1417T>C
ENST00000698317.1:n.2033T>C
ENST00000698318.1:n.1816T>C
ENST00000698319.1:n.1179T>C
ENST00000698320.1:n.1067T>C
ENST00000470127.2:n.1080T>C
ENST00000475699.6:c.571T>C	ENSP00000419854.3:p.Cys191Arg
ENST00000483674.3:n.489T>C
ENST00000601016.6:c.607T>C MANE Select	ENSP00000469981.1:p.Cys203Arg
ENST00000612012.5:c.565T>C	ENSP00000482070.2:p.Cys189Arg
ENST00000612460.5:c.517T>C	ENSP00000481037.1:p.Cys173Arg
ENST00000614595.2:n.1954T>C
ENST00000615658.5:n.1196T>C
ENST00000616020.5:c.619T>C	ENSP00000483636.2:p.Cys207Arg
ENST00000617701.5:c.*620T>C	ENSP00000481645.1:n.*620T>C
ENST00000652354.1:c.289T>C	ENSP00000498734.1:p.Cys97Arg
ENST00000652358.1:c.400T>C	ENSP00000498464.1:p.Cys134Arg
ENST00000652390.1:c.526T>C	ENSP00000498858.1:p.Cys176Arg
ENST00000652476.1:n.1273T>C
ENST00000652644.1:c.220T>C	ENSP00000498496.1:p.Cys74Arg
ENST00000652682.1:c.664T>C	ENSP00000498288.1:p.Cys222Arg
ENST00000652685.1:n.960T>C
ENST00000369776.8:c.400T>C	ENSP00000358791.4:p.Cys134Arg
ENST00000426231.5:c.604T>C
ENST00000439735.2:c.514T>C	ENSP00000398193.1:p.Cys172Arg
ENST00000470127.1:n.186T>C
ENST00000475699.5:c.565T>C	ENSP00000419854.2:p.Cys189Arg
ENST00000494912.5:n.1296T>C
ENST00000498029.1:n.65T>C
ENST00000601016.5:c.607T>C	ENSP00000469981.1:p.Cys203Arg
ENST00000612012.4:c.571T>C	ENSP00000482070.1:p.Cys191Arg
ENST00000612460.4:c.517T>C	ENSP00000481037.1:p.Cys173Arg
ENST00000613002.4:c.475T>C	ENSP00000478154.1:p.Cys159Arg
ENST00000615658.4:n.1296T>C
ENST00000615986.4:c.*335T>C	ENSP00000480133.1:n.*335T>C
ENST00000620808.4:c.*193T>C	ENSP00000479311.1:n.*193T>C
NM_000116.4:c.607T>C	NP_000107.1:p.Cys203Arg
NM_001303465.1:c.619T>C	NP_001290394.1:p.Cys207Arg
NM_181311.3:c.517T>C	NP_851828.1:p.Cys173Arg
NM_181312.3:c.565T>C	NP_851829.1:p.Cys189Arg
NM_181313.3:c.475T>C	NP_851830.1:p.Cys159Arg
NR_024048.2:n.949T>C
XM_006724836.1:c.661T>C	XP_006724899.1:p.Cys221Arg
XM_006724837.1:c.529T>C	XP_006724900.1:p.Cys177Arg
XM_006724839.1:c.529T>C	XP_006724902.1:p.Cys177Arg
XM_006724841.2:c.400T>C	XP_006724904.1:p.Cys134Arg
XM_006724842.2:c.310T>C	XP_006724905.1:p.Cys104Arg
XM_011531189.1:c.448T>C	XP_011529491.1:p.Cys150Arg
XM_011531190.1:c.400T>C	XP_011529492.1:p.Cys134Arg
XM_011531191.1:c.331T>C	XP_011529493.1:p.Cys111Arg
XM_011531192.1:c.328T>C	XP_011529494.1:p.Cys110Arg
XR_938511.1:n.955T>C
XM_006724841.4:c.400T>C	XP_006724904.1:p.Cys134Arg
XM_006724842.4:c.310T>C	XP_006724905.1:p.Cys104Arg
XM_011531191.2:c.331T>C	XP_011529493.1:p.Cys111Arg
XM_017029761.1:c.475T>C	XP_016885250.1:p.Cys159Arg
XM_017029762.1:c.571T>C	XP_016885251.1:p.Cys191Arg
XM_017029763.1:c.394T>C	XP_016885252.1:p.Cys132Arg
XM_017029764.1:c.328T>C	XP_016885253.1:p.Cys110Arg
XM_017029765.2:c.268T>C	XP_016885254.1:p.Cys90Arg
XM_024452431.1:c.448T>C	XP_024308199.1:p.Cys150Arg
NM_000116.5:c.607T>C MANE Select	NP_000107.1:p.Cys203Arg
NM_001303465.2:c.619T>C	NP_001290394.1:p.Cys207Arg
NM_181311.4:c.517T>C	NP_851828.1:p.Cys173Arg
NM_181312.4:c.565T>C	NP_851829.1:p.Cys189Arg
NM_181313.4:c.475T>C	NP_851830.1:p.Cys159Arg
NR_024048.3:n.928T>C