Canonical Allele Identifier: CA415185464

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420712-C-T
• MyVariant Identifiers: chrX:g.153649051C>T (hg19) ; chrX:g.154420712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420712C>T , CM000685.2:g.154420712C>T	GRCh38
NC_000023.10:g.153649051C>T , CM000685.1:g.153649051C>T	GRCh37
NC_000023.9:g.153302245C>T	NCBI36
NG_009634.1:g.14175C>T
NG_009634.2:g.14178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1564C>T
ENST00000698317.1:n.2180C>T
ENST00000698318.1:n.1963C>T
ENST00000698319.1:n.1326C>T
ENST00000698320.1:n.1214C>T
ENST00000470127.2:n.1227C>T
ENST00000475699.6:c.718C>T	ENSP00000419854.3:p.Leu240Phe
ENST00000483674.3:n.636C>T
ENST00000601016.6:c.754C>T MANE Select	ENSP00000469981.1:p.Leu252Phe
ENST00000612012.5:c.712C>T	ENSP00000482070.2:p.Leu238Phe
ENST00000612460.5:c.664C>T	ENSP00000481037.1:p.Leu222Phe
ENST00000614595.2:n.2101C>T
ENST00000615658.5:n.1343C>T
ENST00000616020.5:c.766C>T	ENSP00000483636.2:p.Leu256Phe
ENST00000617701.5:c.*767C>T	ENSP00000481645.1:n.*767C>T
ENST00000651139.1:c.-30C>T	ENSP00000498957.1:n.-30C>T
ENST00000652354.1:c.436C>T	ENSP00000498734.1:p.Leu146Phe
ENST00000652358.1:c.547C>T	ENSP00000498464.1:p.Leu183Phe
ENST00000652390.1:c.673C>T	ENSP00000498858.1:p.Leu225Phe
ENST00000652476.1:n.1420C>T
ENST00000652644.1:c.367C>T	ENSP00000498496.1:p.Leu123Phe
ENST00000652682.1:c.811C>T	ENSP00000498288.1:p.Leu271Phe
ENST00000652685.1:n.1107C>T
ENST00000369776.8:c.664C>T	ENSP00000358791.4:p.Leu222Phe
ENST00000426231.5:c.751C>T
ENST00000475699.5:c.712C>T	ENSP00000419854.2:p.Leu238Phe
ENST00000494912.5:n.1443C>T
ENST00000498029.1:n.212C>T
ENST00000601016.5:c.754C>T	ENSP00000469981.1:p.Leu252Phe
ENST00000612460.4:c.664C>T	ENSP00000481037.1:p.Leu222Phe
ENST00000613002.4:c.622C>T	ENSP00000478154.1:p.Leu208Phe
ENST00000615986.4:c.*482C>T	ENSP00000480133.1:n.*482C>T
NM_000116.4:c.754C>T	NP_000107.1:p.Leu252Phe
NM_001303465.1:c.766C>T	NP_001290394.1:p.Leu256Phe
NM_181311.3:c.664C>T	NP_851828.1:p.Leu222Phe
NM_181312.3:c.712C>T	NP_851829.1:p.Leu238Phe
NM_181313.3:c.622C>T	NP_851830.1:p.Leu208Phe
NR_024048.2:n.1096C>T
XM_006724836.1:c.808C>T	XP_006724899.1:p.Leu270Phe
XM_006724837.1:c.793C>T	XP_006724900.1:p.Leu265Phe
XM_006724839.1:c.676C>T	XP_006724902.1:p.Leu226Phe
XM_006724841.2:c.547C>T	XP_006724904.1:p.Leu183Phe
XM_006724842.2:c.457C>T	XP_006724905.1:p.Leu153Phe
XM_011531189.1:c.595C>T	XP_011529491.1:p.Leu199Phe
XM_011531190.1:c.547C>T	XP_011529492.1:p.Leu183Phe
XM_011531191.1:c.478C>T	XP_011529493.1:p.Leu160Phe
XM_011531192.1:c.475C>T	XP_011529494.1:p.Leu159Phe
XR_938511.1:n.1102C>T
XM_006724841.4:c.547C>T	XP_006724904.1:p.Leu183Phe
XM_006724842.4:c.457C>T	XP_006724905.1:p.Leu153Phe
XM_011531191.2:c.478C>T	XP_011529493.1:p.Leu160Phe
XM_017029761.1:c.739C>T	XP_016885250.1:p.Leu247Phe
XM_017029762.1:c.718C>T	XP_016885251.1:p.Leu240Phe
XM_017029763.1:c.541C>T	XP_016885252.1:p.Leu181Phe
XM_017029764.1:c.475C>T	XP_016885253.1:p.Leu159Phe
XM_017029765.2:c.415C>T	XP_016885254.1:p.Leu139Phe
XM_024452431.1:c.712C>T	XP_024308199.1:p.Leu238Phe
NM_000116.5:c.754C>T MANE Select	NP_000107.1:p.Leu252Phe
NM_001303465.2:c.766C>T	NP_001290394.1:p.Leu256Phe
NM_181311.4:c.664C>T	NP_851828.1:p.Leu222Phe
NM_181312.4:c.712C>T	NP_851829.1:p.Leu238Phe
NM_181313.4:c.622C>T	NP_851830.1:p.Leu208Phe
NR_024048.3:n.1075C>T