Canonical Allele Identifier: CA519278025

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1283141584
• MyVariant Identifiers: chrX:g.153648408C>T (hg19) ; chrX:g.154420069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420069C>T , CM000685.2:g.154420069C>T	GRCh38
NC_000023.10:g.153648408C>T , CM000685.1:g.153648408C>T	GRCh37
NC_000023.9:g.153301602C>T	NCBI36
NG_009634.1:g.13532C>T
NG_009634.2:g.13535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1431C>T
ENST00000698317.1:n.2047C>T
ENST00000698318.1:n.1830C>T
ENST00000698319.1:n.1193C>T
ENST00000698320.1:n.1081C>T
ENST00000470127.2:n.1094C>T
ENST00000475699.6:c.585C>T	ENSP00000419854.3:p.Pro195=
ENST00000483674.3:n.503C>T
ENST00000601016.6:c.621C>T MANE Select	ENSP00000469981.1:p.Pro207=
ENST00000612012.5:c.579C>T	ENSP00000482070.2:p.Pro193=
ENST00000612460.5:c.531C>T	ENSP00000481037.1:p.Pro177=
ENST00000614595.2:n.1968C>T
ENST00000615658.5:n.1210C>T
ENST00000616020.5:c.633C>T	ENSP00000483636.2:p.Pro211=
ENST00000617701.5:c.*634C>T	ENSP00000481645.1:n.*634C>T
ENST00000652354.1:c.303C>T	ENSP00000498734.1:p.Pro101=
ENST00000652358.1:c.414C>T	ENSP00000498464.1:p.Pro138=
ENST00000652390.1:c.540C>T	ENSP00000498858.1:p.Pro180=
ENST00000652476.1:n.1287C>T
ENST00000652644.1:c.234C>T	ENSP00000498496.1:p.Pro78=
ENST00000652682.1:c.678C>T	ENSP00000498288.1:p.Pro226=
ENST00000652685.1:n.974C>T
ENST00000369776.8:c.414C>T	ENSP00000358791.4:p.Pro138=
ENST00000426231.5:c.618C>T
ENST00000439735.2:c.528C>T	ENSP00000398193.1:p.Pro176=
ENST00000470127.1:n.200C>T
ENST00000475699.5:c.579C>T	ENSP00000419854.2:p.Pro193=
ENST00000494912.5:n.1310C>T
ENST00000498029.1:n.79C>T
ENST00000601016.5:c.621C>T	ENSP00000469981.1:p.Pro207=
ENST00000612012.4:c.585C>T	ENSP00000482070.1:p.Pro195=
ENST00000612460.4:c.531C>T	ENSP00000481037.1:p.Pro177=
ENST00000613002.4:c.489C>T	ENSP00000478154.1:p.Pro163=
ENST00000615658.4:n.1310C>T
ENST00000615986.4:c.*349C>T	ENSP00000480133.1:n.*349C>T
ENST00000620808.4:c.*207C>T	ENSP00000479311.1:n.*207C>T
NM_000116.4:c.621C>T	NP_000107.1:p.Pro207=
NM_001303465.1:c.633C>T	NP_001290394.1:p.Pro211=
NM_181311.3:c.531C>T	NP_851828.1:p.Pro177=
NM_181312.3:c.579C>T	NP_851829.1:p.Pro193=
NM_181313.3:c.489C>T	NP_851830.1:p.Pro163=
NR_024048.2:n.963C>T
XM_006724836.1:c.675C>T	XP_006724899.1:p.Pro225=
XM_006724837.1:c.543C>T	XP_006724900.1:p.Pro181=
XM_006724839.1:c.543C>T	XP_006724902.1:p.Pro181=
XM_006724841.2:c.414C>T	XP_006724904.1:p.Pro138=
XM_006724842.2:c.324C>T	XP_006724905.1:p.Pro108=
XM_011531189.1:c.462C>T	XP_011529491.1:p.Pro154=
XM_011531190.1:c.414C>T	XP_011529492.1:p.Pro138=
XM_011531191.1:c.345C>T	XP_011529493.1:p.Pro115=
XM_011531192.1:c.342C>T	XP_011529494.1:p.Pro114=
XR_938511.1:n.969C>T
XM_006724841.4:c.414C>T	XP_006724904.1:p.Pro138=
XM_006724842.4:c.324C>T	XP_006724905.1:p.Pro108=
XM_011531191.2:c.345C>T	XP_011529493.1:p.Pro115=
XM_017029761.1:c.489C>T	XP_016885250.1:p.Pro163=
XM_017029762.1:c.585C>T	XP_016885251.1:p.Pro195=
XM_017029763.1:c.408C>T	XP_016885252.1:p.Pro136=
XM_017029764.1:c.342C>T	XP_016885253.1:p.Pro114=
XM_017029765.2:c.282C>T	XP_016885254.1:p.Pro94=
XM_024452431.1:c.462C>T	XP_024308199.1:p.Pro154=
NM_000116.5:c.621C>T MANE Select	NP_000107.1:p.Pro207=
NM_001303465.2:c.633C>T	NP_001290394.1:p.Pro211=
NM_181311.4:c.531C>T	NP_851828.1:p.Pro177=
NM_181312.4:c.579C>T	NP_851829.1:p.Pro193=
NM_181313.4:c.489C>T	NP_851830.1:p.Pro163=
NR_024048.3:n.942C>T