Canonical Allele Identifier: CA519278017

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648396T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1419T>C
ENST00000698317.1:n.2035T>C
ENST00000698318.1:n.1818T>C
ENST00000698319.1:n.1181T>C
ENST00000698320.1:n.1069T>C
ENST00000470127.2:n.1082T>C
ENST00000475699.6:c.573T>C	ENSP00000419854.3:p.Cys191=
ENST00000483674.3:n.491T>C
ENST00000601016.6:c.609T>C MANE Select	ENSP00000469981.1:p.Cys203=
ENST00000612012.5:c.567T>C	ENSP00000482070.2:p.Cys189=
ENST00000612460.5:c.519T>C	ENSP00000481037.1:p.Cys173=
ENST00000614595.2:n.1956T>C
ENST00000615658.5:n.1198T>C
ENST00000616020.5:c.621T>C	ENSP00000483636.2:p.Cys207=
ENST00000617701.5:c.*622T>C	ENSP00000481645.1:n.*622T>C
ENST00000652354.1:c.291T>C	ENSP00000498734.1:p.Cys97=
ENST00000652358.1:c.402T>C	ENSP00000498464.1:p.Cys134=
ENST00000652390.1:c.528T>C	ENSP00000498858.1:p.Cys176=
ENST00000652476.1:n.1275T>C
ENST00000652644.1:c.222T>C	ENSP00000498496.1:p.Cys74=
ENST00000652682.1:c.666T>C	ENSP00000498288.1:p.Cys222=
ENST00000652685.1:n.962T>C
ENST00000369776.8:c.402T>C	ENSP00000358791.4:p.Cys134=
ENST00000426231.5:c.606T>C
ENST00000439735.2:c.516T>C	ENSP00000398193.1:p.Cys172=
ENST00000470127.1:n.188T>C
ENST00000475699.5:c.567T>C	ENSP00000419854.2:p.Cys189=
ENST00000494912.5:n.1298T>C
ENST00000498029.1:n.67T>C
ENST00000601016.5:c.609T>C	ENSP00000469981.1:p.Cys203=
ENST00000612012.4:c.573T>C	ENSP00000482070.1:p.Cys191=
ENST00000612460.4:c.519T>C	ENSP00000481037.1:p.Cys173=
ENST00000613002.4:c.477T>C	ENSP00000478154.1:p.Cys159=
ENST00000615658.4:n.1298T>C
ENST00000615986.4:c.*337T>C	ENSP00000480133.1:n.*337T>C
ENST00000620808.4:c.*195T>C	ENSP00000479311.1:n.*195T>C
NM_000116.4:c.609T>C	NP_000107.1:p.Cys203=
NM_001303465.1:c.621T>C	NP_001290394.1:p.Cys207=
NM_181311.3:c.519T>C	NP_851828.1:p.Cys173=
NM_181312.3:c.567T>C	NP_851829.1:p.Cys189=
NM_181313.3:c.477T>C	NP_851830.1:p.Cys159=
NR_024048.2:n.951T>C
XM_006724836.1:c.663T>C	XP_006724899.1:p.Cys221=
XM_006724837.1:c.531T>C	XP_006724900.1:p.Cys177=
XM_006724839.1:c.531T>C	XP_006724902.1:p.Cys177=
XM_006724841.2:c.402T>C	XP_006724904.1:p.Cys134=
XM_006724842.2:c.312T>C	XP_006724905.1:p.Cys104=
XM_011531189.1:c.450T>C	XP_011529491.1:p.Cys150=
XM_011531190.1:c.402T>C	XP_011529492.1:p.Cys134=
XM_011531191.1:c.333T>C	XP_011529493.1:p.Cys111=
XM_011531192.1:c.330T>C	XP_011529494.1:p.Cys110=
XR_938511.1:n.957T>C
XM_006724841.4:c.402T>C	XP_006724904.1:p.Cys134=
XM_006724842.4:c.312T>C	XP_006724905.1:p.Cys104=
XM_011531191.2:c.333T>C	XP_011529493.1:p.Cys111=
XM_017029761.1:c.477T>C	XP_016885250.1:p.Cys159=
XM_017029762.1:c.573T>C	XP_016885251.1:p.Cys191=
XM_017029763.1:c.396T>C	XP_016885252.1:p.Cys132=
XM_017029764.1:c.330T>C	XP_016885253.1:p.Cys110=
XM_017029765.2:c.270T>C	XP_016885254.1:p.Cys90=
XM_024452431.1:c.450T>C	XP_024308199.1:p.Cys150=
NM_000116.5:c.609T>C MANE Select	NP_000107.1:p.Cys203=
NM_001303465.2:c.621T>C	NP_001290394.1:p.Cys207=
NM_181311.4:c.519T>C	NP_851828.1:p.Cys173=
NM_181312.4:c.567T>C	NP_851829.1:p.Cys189=
NM_181313.4:c.477T>C	NP_851830.1:p.Cys159=
NR_024048.3:n.930T>C