Canonical Allele Identifier: CA415185535

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649072G>T (hg19) ; chrX:g.154420733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420733G>T , CM000685.2:g.154420733G>T	GRCh38
NC_000023.10:g.153649072G>T , CM000685.1:g.153649072G>T	GRCh37
NC_000023.9:g.153302266G>T	NCBI36
NG_009634.1:g.14196G>T
NG_009634.2:g.14199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1585G>T
ENST00000698317.1:n.2201G>T
ENST00000698318.1:n.1984G>T
ENST00000698319.1:n.1347G>T
ENST00000698320.1:n.1235G>T
ENST00000470127.2:n.1248G>T
ENST00000475699.6:c.739G>T	ENSP00000419854.3:p.Ala247Ser
ENST00000483674.3:n.657G>T
ENST00000601016.6:c.775G>T MANE Select	ENSP00000469981.1:p.Ala259Ser
ENST00000612012.5:c.733G>T	ENSP00000482070.2:p.Ala245Ser
ENST00000612460.5:c.685G>T	ENSP00000481037.1:p.Ala229Ser
ENST00000614595.2:n.2122G>T
ENST00000615658.5:n.1364G>T
ENST00000616020.5:c.787G>T	ENSP00000483636.2:p.Ala263Ser
ENST00000617701.5:c.*788G>T	ENSP00000481645.1:n.*788G>T
ENST00000651139.1:c.-9G>T	ENSP00000498957.1:n.-9G>T
ENST00000652354.1:c.457G>T	ENSP00000498734.1:p.Ala153Ser
ENST00000652358.1:c.568G>T	ENSP00000498464.1:p.Ala190Ser
ENST00000652390.1:c.694G>T	ENSP00000498858.1:p.Ala232Ser
ENST00000652476.1:n.1441G>T
ENST00000652644.1:c.388G>T	ENSP00000498496.1:p.Ala130Ser
ENST00000652682.1:c.832G>T	ENSP00000498288.1:p.Ala278Ser
ENST00000652685.1:n.1128G>T
ENST00000369776.8:c.685G>T	ENSP00000358791.4:p.Ala229Ser
ENST00000426231.5:c.772G>T
ENST00000475699.5:c.733G>T	ENSP00000419854.2:p.Ala245Ser
ENST00000494912.5:n.1464G>T
ENST00000498029.1:n.233G>T
ENST00000601016.5:c.775G>T	ENSP00000469981.1:p.Ala259Ser
ENST00000612460.4:c.685G>T	ENSP00000481037.1:p.Ala229Ser
ENST00000613002.4:c.643G>T	ENSP00000478154.1:p.Ala215Ser
ENST00000615986.4:c.*503G>T	ENSP00000480133.1:n.*503G>T
NM_000116.4:c.775G>T	NP_000107.1:p.Ala259Ser
NM_001303465.1:c.787G>T	NP_001290394.1:p.Ala263Ser
NM_181311.3:c.685G>T	NP_851828.1:p.Ala229Ser
NM_181312.3:c.733G>T	NP_851829.1:p.Ala245Ser
NM_181313.3:c.643G>T	NP_851830.1:p.Ala215Ser
NR_024048.2:n.1117G>T
XM_006724836.1:c.829G>T	XP_006724899.1:p.Ala277Ser
XM_006724837.1:c.814G>T	XP_006724900.1:p.Ala272Ser
XM_006724839.1:c.697G>T	XP_006724902.1:p.Ala233Ser
XM_006724841.2:c.568G>T	XP_006724904.1:p.Ala190Ser
XM_006724842.2:c.478G>T	XP_006724905.1:p.Ala160Ser
XM_011531189.1:c.616G>T	XP_011529491.1:p.Ala206Ser
XM_011531190.1:c.568G>T	XP_011529492.1:p.Ala190Ser
XM_011531191.1:c.499G>T	XP_011529493.1:p.Ala167Ser
XM_011531192.1:c.496G>T	XP_011529494.1:p.Ala166Ser
XR_938511.1:n.1123G>T
XM_006724841.4:c.568G>T	XP_006724904.1:p.Ala190Ser
XM_006724842.4:c.478G>T	XP_006724905.1:p.Ala160Ser
XM_011531191.2:c.499G>T	XP_011529493.1:p.Ala167Ser
XM_017029761.1:c.760G>T	XP_016885250.1:p.Ala254Ser
XM_017029762.1:c.739G>T	XP_016885251.1:p.Ala247Ser
XM_017029763.1:c.562G>T	XP_016885252.1:p.Ala188Ser
XM_017029764.1:c.496G>T	XP_016885253.1:p.Ala166Ser
XM_017029765.2:c.436G>T	XP_016885254.1:p.Ala146Ser
XM_024452431.1:c.733G>T	XP_024308199.1:p.Ala245Ser
NM_000116.5:c.775G>T MANE Select	NP_000107.1:p.Ala259Ser
NM_001303465.2:c.787G>T	NP_001290394.1:p.Ala263Ser
NM_181311.4:c.685G>T	NP_851828.1:p.Ala229Ser
NM_181312.4:c.733G>T	NP_851829.1:p.Ala245Ser
NM_181313.4:c.643G>T	NP_851830.1:p.Ala215Ser
NR_024048.3:n.1096G>T