Canonical Allele Identifier: CA415185390

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649021C>G (hg19) ; chrX:g.154420682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420682C>G , CM000685.2:g.154420682C>G	GRCh38
NC_000023.10:g.153649021C>G , CM000685.1:g.153649021C>G	GRCh37
NC_000023.9:g.153302215C>G	NCBI36
NG_009634.1:g.14145C>G
NG_009634.2:g.14148C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1534C>G
ENST00000698317.1:n.2150C>G
ENST00000698318.1:n.1933C>G
ENST00000698319.1:n.1296C>G
ENST00000698320.1:n.1184C>G
ENST00000470127.2:n.1197C>G
ENST00000475699.6:c.688C>G	ENSP00000419854.3:p.Pro230Ala
ENST00000483674.3:n.606C>G
ENST00000601016.6:c.724C>G MANE Select	ENSP00000469981.1:p.Pro242Ala
ENST00000612012.5:c.682C>G	ENSP00000482070.2:p.Pro228Ala
ENST00000612460.5:c.634C>G	ENSP00000481037.1:p.Pro212Ala
ENST00000614595.2:n.2071C>G
ENST00000615658.5:n.1313C>G
ENST00000616020.5:c.736C>G	ENSP00000483636.2:p.Pro246Ala
ENST00000617701.5:c.*737C>G	ENSP00000481645.1:n.*737C>G
ENST00000651139.1:c.-60C>G	ENSP00000498957.1:n.-60C>G
ENST00000652354.1:c.406C>G	ENSP00000498734.1:p.Pro136Ala
ENST00000652358.1:c.517C>G	ENSP00000498464.1:p.Pro173Ala
ENST00000652390.1:c.643C>G	ENSP00000498858.1:p.Pro215Ala
ENST00000652476.1:n.1390C>G
ENST00000652644.1:c.337C>G	ENSP00000498496.1:p.Pro113Ala
ENST00000652682.1:c.781C>G	ENSP00000498288.1:p.Pro261Ala
ENST00000652685.1:n.1077C>G
ENST00000369776.8:c.634C>G	ENSP00000358791.4:p.Pro212Ala
ENST00000426231.5:c.721C>G
ENST00000475699.5:c.682C>G	ENSP00000419854.2:p.Pro228Ala
ENST00000494912.5:n.1413C>G
ENST00000498029.1:n.182C>G
ENST00000601016.5:c.724C>G	ENSP00000469981.1:p.Pro242Ala
ENST00000612460.4:c.634C>G	ENSP00000481037.1:p.Pro212Ala
ENST00000613002.4:c.592C>G	ENSP00000478154.1:p.Pro198Ala
ENST00000615986.4:c.*452C>G	ENSP00000480133.1:n.*452C>G
NM_000116.4:c.724C>G	NP_000107.1:p.Pro242Ala
NM_001303465.1:c.736C>G	NP_001290394.1:p.Pro246Ala
NM_181311.3:c.634C>G	NP_851828.1:p.Pro212Ala
NM_181312.3:c.682C>G	NP_851829.1:p.Pro228Ala
NM_181313.3:c.592C>G	NP_851830.1:p.Pro198Ala
NR_024048.2:n.1066C>G
XM_006724836.1:c.778C>G	XP_006724899.1:p.Pro260Ala
XM_006724837.1:c.763C>G	XP_006724900.1:p.Pro255Ala
XM_006724839.1:c.646C>G	XP_006724902.1:p.Pro216Ala
XM_006724841.2:c.517C>G	XP_006724904.1:p.Pro173Ala
XM_006724842.2:c.427C>G	XP_006724905.1:p.Pro143Ala
XM_011531189.1:c.565C>G	XP_011529491.1:p.Pro189Ala
XM_011531190.1:c.517C>G	XP_011529492.1:p.Pro173Ala
XM_011531191.1:c.448C>G	XP_011529493.1:p.Pro150Ala
XM_011531192.1:c.445C>G	XP_011529494.1:p.Pro149Ala
XR_938511.1:n.1072C>G
XM_006724841.4:c.517C>G	XP_006724904.1:p.Pro173Ala
XM_006724842.4:c.427C>G	XP_006724905.1:p.Pro143Ala
XM_011531191.2:c.448C>G	XP_011529493.1:p.Pro150Ala
XM_017029761.1:c.709C>G	XP_016885250.1:p.Pro237Ala
XM_017029762.1:c.688C>G	XP_016885251.1:p.Pro230Ala
XM_017029763.1:c.511C>G	XP_016885252.1:p.Pro171Ala
XM_017029764.1:c.445C>G	XP_016885253.1:p.Pro149Ala
XM_017029765.2:c.385C>G	XP_016885254.1:p.Pro129Ala
XM_024452431.1:c.682C>G	XP_024308199.1:p.Pro228Ala
NM_000116.5:c.724C>G MANE Select	NP_000107.1:p.Pro242Ala
NM_001303465.2:c.736C>G	NP_001290394.1:p.Pro246Ala
NM_181311.4:c.634C>G	NP_851828.1:p.Pro212Ala
NM_181312.4:c.682C>G	NP_851829.1:p.Pro228Ala
NM_181313.4:c.592C>G	NP_851830.1:p.Pro198Ala
NR_024048.3:n.1045C>G