Canonical Allele Identifier: CA415185424

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649036C>G (hg19) ; chrX:g.154420697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420697C>G , CM000685.2:g.154420697C>G	GRCh38
NC_000023.10:g.153649036C>G , CM000685.1:g.153649036C>G	GRCh37
NC_000023.9:g.153302230C>G	NCBI36
NG_009634.1:g.14160C>G
NG_009634.2:g.14163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1549C>G
ENST00000698317.1:n.2165C>G
ENST00000698318.1:n.1948C>G
ENST00000698319.1:n.1311C>G
ENST00000698320.1:n.1199C>G
ENST00000470127.2:n.1212C>G
ENST00000475699.6:c.703C>G	ENSP00000419854.3:p.Pro235Ala
ENST00000483674.3:n.621C>G
ENST00000601016.6:c.739C>G MANE Select	ENSP00000469981.1:p.Pro247Ala
ENST00000612012.5:c.697C>G	ENSP00000482070.2:p.Pro233Ala
ENST00000612460.5:c.649C>G	ENSP00000481037.1:p.Pro217Ala
ENST00000614595.2:n.2086C>G
ENST00000615658.5:n.1328C>G
ENST00000616020.5:c.751C>G	ENSP00000483636.2:p.Pro251Ala
ENST00000617701.5:c.*752C>G	ENSP00000481645.1:n.*752C>G
ENST00000651139.1:c.-45C>G	ENSP00000498957.1:n.-45C>G
ENST00000652354.1:c.421C>G	ENSP00000498734.1:p.Pro141Ala
ENST00000652358.1:c.532C>G	ENSP00000498464.1:p.Pro178Ala
ENST00000652390.1:c.658C>G	ENSP00000498858.1:p.Pro220Ala
ENST00000652476.1:n.1405C>G
ENST00000652644.1:c.352C>G	ENSP00000498496.1:p.Pro118Ala
ENST00000652682.1:c.796C>G	ENSP00000498288.1:p.Pro266Ala
ENST00000652685.1:n.1092C>G
ENST00000369776.8:c.649C>G	ENSP00000358791.4:p.Pro217Ala
ENST00000426231.5:c.736C>G
ENST00000475699.5:c.697C>G	ENSP00000419854.2:p.Pro233Ala
ENST00000494912.5:n.1428C>G
ENST00000498029.1:n.197C>G
ENST00000601016.5:c.739C>G	ENSP00000469981.1:p.Pro247Ala
ENST00000612460.4:c.649C>G	ENSP00000481037.1:p.Pro217Ala
ENST00000613002.4:c.607C>G	ENSP00000478154.1:p.Pro203Ala
ENST00000615986.4:c.*467C>G	ENSP00000480133.1:n.*467C>G
NM_000116.4:c.739C>G	NP_000107.1:p.Pro247Ala
NM_001303465.1:c.751C>G	NP_001290394.1:p.Pro251Ala
NM_181311.3:c.649C>G	NP_851828.1:p.Pro217Ala
NM_181312.3:c.697C>G	NP_851829.1:p.Pro233Ala
NM_181313.3:c.607C>G	NP_851830.1:p.Pro203Ala
NR_024048.2:n.1081C>G
XM_006724836.1:c.793C>G	XP_006724899.1:p.Pro265Ala
XM_006724837.1:c.778C>G	XP_006724900.1:p.Pro260Ala
XM_006724839.1:c.661C>G	XP_006724902.1:p.Pro221Ala
XM_006724841.2:c.532C>G	XP_006724904.1:p.Pro178Ala
XM_006724842.2:c.442C>G	XP_006724905.1:p.Pro148Ala
XM_011531189.1:c.580C>G	XP_011529491.1:p.Pro194Ala
XM_011531190.1:c.532C>G	XP_011529492.1:p.Pro178Ala
XM_011531191.1:c.463C>G	XP_011529493.1:p.Pro155Ala
XM_011531192.1:c.460C>G	XP_011529494.1:p.Pro154Ala
XR_938511.1:n.1087C>G
XM_006724841.4:c.532C>G	XP_006724904.1:p.Pro178Ala
XM_006724842.4:c.442C>G	XP_006724905.1:p.Pro148Ala
XM_011531191.2:c.463C>G	XP_011529493.1:p.Pro155Ala
XM_017029761.1:c.724C>G	XP_016885250.1:p.Pro242Ala
XM_017029762.1:c.703C>G	XP_016885251.1:p.Pro235Ala
XM_017029763.1:c.526C>G	XP_016885252.1:p.Pro176Ala
XM_017029764.1:c.460C>G	XP_016885253.1:p.Pro154Ala
XM_017029765.2:c.400C>G	XP_016885254.1:p.Pro134Ala
XM_024452431.1:c.697C>G	XP_024308199.1:p.Pro233Ala
NM_000116.5:c.739C>G MANE Select	NP_000107.1:p.Pro247Ala
NM_001303465.2:c.751C>G	NP_001290394.1:p.Pro251Ala
NM_181311.4:c.649C>G	NP_851828.1:p.Pro217Ala
NM_181312.4:c.697C>G	NP_851829.1:p.Pro233Ala
NM_181313.4:c.607C>G	NP_851830.1:p.Pro203Ala
NR_024048.3:n.1060C>G