Canonical Allele Identifier: CA415185416

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649031C>G (hg19) ; chrX:g.154420692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420692C>G , CM000685.2:g.154420692C>G	GRCh38
NC_000023.10:g.153649031C>G , CM000685.1:g.153649031C>G	GRCh37
NC_000023.9:g.153302225C>G	NCBI36
NG_009634.1:g.14155C>G
NG_009634.2:g.14158C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1544C>G
ENST00000698317.1:n.2160C>G
ENST00000698318.1:n.1943C>G
ENST00000698319.1:n.1306C>G
ENST00000698320.1:n.1194C>G
ENST00000470127.2:n.1207C>G
ENST00000475699.6:c.698C>G	ENSP00000419854.3:p.Ala233Gly
ENST00000483674.3:n.616C>G
ENST00000601016.6:c.734C>G MANE Select	ENSP00000469981.1:p.Ala245Gly
ENST00000612012.5:c.692C>G	ENSP00000482070.2:p.Ala231Gly
ENST00000612460.5:c.644C>G	ENSP00000481037.1:p.Ala215Gly
ENST00000614595.2:n.2081C>G
ENST00000615658.5:n.1323C>G
ENST00000616020.5:c.746C>G	ENSP00000483636.2:p.Ala249Gly
ENST00000617701.5:c.*747C>G	ENSP00000481645.1:n.*747C>G
ENST00000651139.1:c.-50C>G	ENSP00000498957.1:n.-50C>G
ENST00000652354.1:c.416C>G	ENSP00000498734.1:p.Ala139Gly
ENST00000652358.1:c.527C>G	ENSP00000498464.1:p.Ala176Gly
ENST00000652390.1:c.653C>G	ENSP00000498858.1:p.Ala218Gly
ENST00000652476.1:n.1400C>G
ENST00000652644.1:c.347C>G	ENSP00000498496.1:p.Ala116Gly
ENST00000652682.1:c.791C>G	ENSP00000498288.1:p.Ala264Gly
ENST00000652685.1:n.1087C>G
ENST00000369776.8:c.644C>G	ENSP00000358791.4:p.Ala215Gly
ENST00000426231.5:c.731C>G
ENST00000475699.5:c.692C>G	ENSP00000419854.2:p.Ala231Gly
ENST00000494912.5:n.1423C>G
ENST00000498029.1:n.192C>G
ENST00000601016.5:c.734C>G	ENSP00000469981.1:p.Ala245Gly
ENST00000612460.4:c.644C>G	ENSP00000481037.1:p.Ala215Gly
ENST00000613002.4:c.602C>G	ENSP00000478154.1:p.Ala201Gly
ENST00000615986.4:c.*462C>G	ENSP00000480133.1:n.*462C>G
NM_000116.4:c.734C>G	NP_000107.1:p.Ala245Gly
NM_001303465.1:c.746C>G	NP_001290394.1:p.Ala249Gly
NM_181311.3:c.644C>G	NP_851828.1:p.Ala215Gly
NM_181312.3:c.692C>G	NP_851829.1:p.Ala231Gly
NM_181313.3:c.602C>G	NP_851830.1:p.Ala201Gly
NR_024048.2:n.1076C>G
XM_006724836.1:c.788C>G	XP_006724899.1:p.Ala263Gly
XM_006724837.1:c.773C>G	XP_006724900.1:p.Ala258Gly
XM_006724839.1:c.656C>G	XP_006724902.1:p.Ala219Gly
XM_006724841.2:c.527C>G	XP_006724904.1:p.Ala176Gly
XM_006724842.2:c.437C>G	XP_006724905.1:p.Ala146Gly
XM_011531189.1:c.575C>G	XP_011529491.1:p.Ala192Gly
XM_011531190.1:c.527C>G	XP_011529492.1:p.Ala176Gly
XM_011531191.1:c.458C>G	XP_011529493.1:p.Ala153Gly
XM_011531192.1:c.455C>G	XP_011529494.1:p.Ala152Gly
XR_938511.1:n.1082C>G
XM_006724841.4:c.527C>G	XP_006724904.1:p.Ala176Gly
XM_006724842.4:c.437C>G	XP_006724905.1:p.Ala146Gly
XM_011531191.2:c.458C>G	XP_011529493.1:p.Ala153Gly
XM_017029761.1:c.719C>G	XP_016885250.1:p.Ala240Gly
XM_017029762.1:c.698C>G	XP_016885251.1:p.Ala233Gly
XM_017029763.1:c.521C>G	XP_016885252.1:p.Ala174Gly
XM_017029764.1:c.455C>G	XP_016885253.1:p.Ala152Gly
XM_017029765.2:c.395C>G	XP_016885254.1:p.Ala132Gly
XM_024452431.1:c.692C>G	XP_024308199.1:p.Ala231Gly
NM_000116.5:c.734C>G MANE Select	NP_000107.1:p.Ala245Gly
NM_001303465.2:c.746C>G	NP_001290394.1:p.Ala249Gly
NM_181311.4:c.644C>G	NP_851828.1:p.Ala215Gly
NM_181312.4:c.692C>G	NP_851829.1:p.Ala231Gly
NM_181313.4:c.602C>G	NP_851830.1:p.Ala201Gly
NR_024048.3:n.1055C>G