Canonical Allele Identifier: CA415184332

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648414C>G (hg19) ; chrX:g.154420075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420075C>G , CM000685.2:g.154420075C>G	GRCh38
NC_000023.10:g.153648414C>G , CM000685.1:g.153648414C>G	GRCh37
NC_000023.9:g.153301608C>G	NCBI36
NG_009634.1:g.13538C>G
NG_009634.2:g.13541C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1437C>G
ENST00000698317.1:n.2053C>G
ENST00000698318.1:n.1836C>G
ENST00000698319.1:n.1199C>G
ENST00000698320.1:n.1087C>G
ENST00000470127.2:n.1100C>G
ENST00000475699.6:c.591C>G	ENSP00000419854.3:p.Ile197Met
ENST00000483674.3:n.509C>G
ENST00000601016.6:c.627C>G MANE Select	ENSP00000469981.1:p.Ile209Met
ENST00000612012.5:c.585C>G	ENSP00000482070.2:p.Ile195Met
ENST00000612460.5:c.537C>G	ENSP00000481037.1:p.Ile179Met
ENST00000614595.2:n.1974C>G
ENST00000615658.5:n.1216C>G
ENST00000616020.5:c.639C>G	ENSP00000483636.2:p.Ile213Met
ENST00000617701.5:c.*640C>G	ENSP00000481645.1:n.*640C>G
ENST00000652354.1:c.309C>G	ENSP00000498734.1:p.Ile103Met
ENST00000652358.1:c.420C>G	ENSP00000498464.1:p.Ile140Met
ENST00000652390.1:c.546C>G	ENSP00000498858.1:p.Ile182Met
ENST00000652476.1:n.1293C>G
ENST00000652644.1:c.240C>G	ENSP00000498496.1:p.Ile80Met
ENST00000652682.1:c.684C>G	ENSP00000498288.1:p.Ile228Met
ENST00000652685.1:n.980C>G
ENST00000369776.8:c.420C>G	ENSP00000358791.4:p.Ile140Met
ENST00000426231.5:c.624C>G
ENST00000439735.2:c.534C>G	ENSP00000398193.1:p.Ile178Met
ENST00000470127.1:n.206C>G
ENST00000475699.5:c.585C>G	ENSP00000419854.2:p.Ile195Met
ENST00000494912.5:n.1316C>G
ENST00000498029.1:n.85C>G
ENST00000601016.5:c.627C>G	ENSP00000469981.1:p.Ile209Met
ENST00000612460.4:c.537C>G	ENSP00000481037.1:p.Ile179Met
ENST00000613002.4:c.495C>G	ENSP00000478154.1:p.Ile165Met
ENST00000615658.4:n.1316C>G
ENST00000615986.4:c.*355C>G	ENSP00000480133.1:n.*355C>G
ENST00000620808.4:c.*213C>G	ENSP00000479311.1:n.*213C>G
NM_000116.4:c.627C>G	NP_000107.1:p.Ile209Met
NM_001303465.1:c.639C>G	NP_001290394.1:p.Ile213Met
NM_181311.3:c.537C>G	NP_851828.1:p.Ile179Met
NM_181312.3:c.585C>G	NP_851829.1:p.Ile195Met
NM_181313.3:c.495C>G	NP_851830.1:p.Ile165Met
NR_024048.2:n.969C>G
XM_006724836.1:c.681C>G	XP_006724899.1:p.Ile227Met
XM_006724837.1:c.549C>G	XP_006724900.1:p.Ile183Met
XM_006724839.1:c.549C>G	XP_006724902.1:p.Ile183Met
XM_006724841.2:c.420C>G	XP_006724904.1:p.Ile140Met
XM_006724842.2:c.330C>G	XP_006724905.1:p.Ile110Met
XM_011531189.1:c.468C>G	XP_011529491.1:p.Ile156Met
XM_011531190.1:c.420C>G	XP_011529492.1:p.Ile140Met
XM_011531191.1:c.351C>G	XP_011529493.1:p.Ile117Met
XM_011531192.1:c.348C>G	XP_011529494.1:p.Ile116Met
XR_938511.1:n.975C>G
XM_006724841.4:c.420C>G	XP_006724904.1:p.Ile140Met
XM_006724842.4:c.330C>G	XP_006724905.1:p.Ile110Met
XM_011531191.2:c.351C>G	XP_011529493.1:p.Ile117Met
XM_017029761.1:c.495C>G	XP_016885250.1:p.Ile165Met
XM_017029762.1:c.591C>G	XP_016885251.1:p.Ile197Met
XM_017029763.1:c.414C>G	XP_016885252.1:p.Ile138Met
XM_017029764.1:c.348C>G	XP_016885253.1:p.Ile116Met
XM_017029765.2:c.288C>G	XP_016885254.1:p.Ile96Met
XM_024452431.1:c.468C>G	XP_024308199.1:p.Ile156Met
NM_000116.5:c.627C>G MANE Select	NP_000107.1:p.Ile209Met
NM_001303465.2:c.639C>G	NP_001290394.1:p.Ile213Met
NM_181311.4:c.537C>G	NP_851828.1:p.Ile179Met
NM_181312.4:c.585C>G	NP_851829.1:p.Ile195Met
NM_181313.4:c.495C>G	NP_851830.1:p.Ile165Met
NR_024048.3:n.948C>G