Canonical Allele Identifier: CA415185391

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1534C>T
ENST00000698317.1:n.2150C>T
ENST00000698318.1:n.1933C>T
ENST00000698319.1:n.1296C>T
ENST00000698320.1:n.1184C>T
ENST00000470127.2:n.1197C>T
ENST00000475699.6:c.688C>T	ENSP00000419854.3:p.Pro230Ser
ENST00000483674.3:n.606C>T
ENST00000601016.6:c.724C>T MANE Select	ENSP00000469981.1:p.Pro242Ser
ENST00000612012.5:c.682C>T	ENSP00000482070.2:p.Pro228Ser
ENST00000612460.5:c.634C>T	ENSP00000481037.1:p.Pro212Ser
ENST00000614595.2:n.2071C>T
ENST00000615658.5:n.1313C>T
ENST00000616020.5:c.736C>T	ENSP00000483636.2:p.Pro246Ser
ENST00000617701.5:c.*737C>T	ENSP00000481645.1:n.*737C>T
ENST00000651139.1:c.-60C>T	ENSP00000498957.1:n.-60C>T
ENST00000652354.1:c.406C>T	ENSP00000498734.1:p.Pro136Ser
ENST00000652358.1:c.517C>T	ENSP00000498464.1:p.Pro173Ser
ENST00000652390.1:c.643C>T	ENSP00000498858.1:p.Pro215Ser
ENST00000652476.1:n.1390C>T
ENST00000652644.1:c.337C>T	ENSP00000498496.1:p.Pro113Ser
ENST00000652682.1:c.781C>T	ENSP00000498288.1:p.Pro261Ser
ENST00000652685.1:n.1077C>T
ENST00000369776.8:c.634C>T	ENSP00000358791.4:p.Pro212Ser
ENST00000426231.5:c.721C>T
ENST00000475699.5:c.682C>T	ENSP00000419854.2:p.Pro228Ser
ENST00000494912.5:n.1413C>T
ENST00000498029.1:n.182C>T
ENST00000601016.5:c.724C>T	ENSP00000469981.1:p.Pro242Ser
ENST00000612460.4:c.634C>T	ENSP00000481037.1:p.Pro212Ser
ENST00000613002.4:c.592C>T	ENSP00000478154.1:p.Pro198Ser
ENST00000615986.4:c.*452C>T	ENSP00000480133.1:n.*452C>T
NM_000116.4:c.724C>T	NP_000107.1:p.Pro242Ser
NM_001303465.1:c.736C>T	NP_001290394.1:p.Pro246Ser
NM_181311.3:c.634C>T	NP_851828.1:p.Pro212Ser
NM_181312.3:c.682C>T	NP_851829.1:p.Pro228Ser
NM_181313.3:c.592C>T	NP_851830.1:p.Pro198Ser
NR_024048.2:n.1066C>T
XM_006724836.1:c.778C>T	XP_006724899.1:p.Pro260Ser
XM_006724837.1:c.763C>T	XP_006724900.1:p.Pro255Ser
XM_006724839.1:c.646C>T	XP_006724902.1:p.Pro216Ser
XM_006724841.2:c.517C>T	XP_006724904.1:p.Pro173Ser
XM_006724842.2:c.427C>T	XP_006724905.1:p.Pro143Ser
XM_011531189.1:c.565C>T	XP_011529491.1:p.Pro189Ser
XM_011531190.1:c.517C>T	XP_011529492.1:p.Pro173Ser
XM_011531191.1:c.448C>T	XP_011529493.1:p.Pro150Ser
XM_011531192.1:c.445C>T	XP_011529494.1:p.Pro149Ser
XR_938511.1:n.1072C>T
XM_006724841.4:c.517C>T	XP_006724904.1:p.Pro173Ser
XM_006724842.4:c.427C>T	XP_006724905.1:p.Pro143Ser
XM_011531191.2:c.448C>T	XP_011529493.1:p.Pro150Ser
XM_017029761.1:c.709C>T	XP_016885250.1:p.Pro237Ser
XM_017029762.1:c.688C>T	XP_016885251.1:p.Pro230Ser
XM_017029763.1:c.511C>T	XP_016885252.1:p.Pro171Ser
XM_017029764.1:c.445C>T	XP_016885253.1:p.Pro149Ser
XM_017029765.2:c.385C>T	XP_016885254.1:p.Pro129Ser
XM_024452431.1:c.682C>T	XP_024308199.1:p.Pro228Ser
NM_000116.5:c.724C>T MANE Select	NP_000107.1:p.Pro242Ser
NM_001303465.2:c.736C>T	NP_001290394.1:p.Pro246Ser
NM_181311.4:c.634C>T	NP_851828.1:p.Pro212Ser
NM_181312.4:c.682C>T	NP_851829.1:p.Pro228Ser
NM_181313.4:c.592C>T	NP_851830.1:p.Pro198Ser
NR_024048.3:n.1045C>T