Canonical Allele Identifier: CA519278167

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420666-T-C
• MyVariant Identifiers: chrX:g.153649005T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420666T>C , CM000685.2:g.154420666T>C	GRCh38
NC_000023.10:g.153649005T>C , CM000685.1:g.153649005T>C	GRCh37
NC_000023.9:g.153302199T>C	NCBI36
NG_009634.1:g.14129T>C
NG_009634.2:g.14132T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1518T>C
ENST00000698317.1:n.2134T>C
ENST00000698318.1:n.1917T>C
ENST00000698319.1:n.1280T>C
ENST00000698320.1:n.1168T>C
ENST00000470127.2:n.1181T>C
ENST00000475699.6:c.672T>C	ENSP00000419854.3:p.Thr224=
ENST00000483674.3:n.590T>C
ENST00000601016.6:c.708T>C MANE Select	ENSP00000469981.1:p.Thr236=
ENST00000612012.5:c.666T>C	ENSP00000482070.2:p.Thr222=
ENST00000612460.5:c.618T>C	ENSP00000481037.1:p.Thr206=
ENST00000614595.2:n.2055T>C
ENST00000615658.5:n.1297T>C
ENST00000616020.5:c.720T>C	ENSP00000483636.2:p.Thr240=
ENST00000617701.5:c.*721T>C	ENSP00000481645.1:n.*721T>C
ENST00000651139.1:c.-76T>C	ENSP00000498957.1:n.-76T>C
ENST00000652354.1:c.390T>C	ENSP00000498734.1:p.Thr130=
ENST00000652358.1:c.501T>C	ENSP00000498464.1:p.Thr167=
ENST00000652390.1:c.627T>C	ENSP00000498858.1:p.Thr209=
ENST00000652476.1:n.1374T>C
ENST00000652644.1:c.321T>C	ENSP00000498496.1:p.Thr107=
ENST00000652682.1:c.765T>C	ENSP00000498288.1:p.Thr255=
ENST00000652685.1:n.1061T>C
ENST00000369776.8:c.618T>C	ENSP00000358791.4:p.Thr206=
ENST00000426231.5:c.705T>C
ENST00000475699.5:c.666T>C	ENSP00000419854.2:p.Thr222=
ENST00000494912.5:n.1397T>C
ENST00000498029.1:n.166T>C
ENST00000601016.5:c.708T>C	ENSP00000469981.1:p.Thr236=
ENST00000612460.4:c.618T>C	ENSP00000481037.1:p.Thr206=
ENST00000613002.4:c.576T>C	ENSP00000478154.1:p.Thr192=
ENST00000615986.4:c.*436T>C	ENSP00000480133.1:n.*436T>C
NM_000116.4:c.708T>C	NP_000107.1:p.Thr236=
NM_001303465.1:c.720T>C	NP_001290394.1:p.Thr240=
NM_181311.3:c.618T>C	NP_851828.1:p.Thr206=
NM_181312.3:c.666T>C	NP_851829.1:p.Thr222=
NM_181313.3:c.576T>C	NP_851830.1:p.Thr192=
NR_024048.2:n.1050T>C
XM_006724836.1:c.762T>C	XP_006724899.1:p.Thr254=
XM_006724837.1:c.747T>C	XP_006724900.1:p.Thr249=
XM_006724839.1:c.630T>C	XP_006724902.1:p.Thr210=
XM_006724841.2:c.501T>C	XP_006724904.1:p.Thr167=
XM_006724842.2:c.411T>C	XP_006724905.1:p.Thr137=
XM_011531189.1:c.549T>C	XP_011529491.1:p.Thr183=
XM_011531190.1:c.501T>C	XP_011529492.1:p.Thr167=
XM_011531191.1:c.432T>C	XP_011529493.1:p.Thr144=
XM_011531192.1:c.429T>C	XP_011529494.1:p.Thr143=
XR_938511.1:n.1056T>C
XM_006724841.4:c.501T>C	XP_006724904.1:p.Thr167=
XM_006724842.4:c.411T>C	XP_006724905.1:p.Thr137=
XM_011531191.2:c.432T>C	XP_011529493.1:p.Thr144=
XM_017029761.1:c.693T>C	XP_016885250.1:p.Thr231=
XM_017029762.1:c.672T>C	XP_016885251.1:p.Thr224=
XM_017029763.1:c.495T>C	XP_016885252.1:p.Thr165=
XM_017029764.1:c.429T>C	XP_016885253.1:p.Thr143=
XM_017029765.2:c.369T>C	XP_016885254.1:p.Thr123=
XM_024452431.1:c.666T>C	XP_024308199.1:p.Thr222=
NM_000116.5:c.708T>C MANE Select	NP_000107.1:p.Thr236=
NM_001303465.2:c.720T>C	NP_001290394.1:p.Thr240=
NM_181311.4:c.618T>C	NP_851828.1:p.Thr206=
NM_181312.4:c.666T>C	NP_851829.1:p.Thr222=
NM_181313.4:c.576T>C	NP_851830.1:p.Thr192=
NR_024048.3:n.1029T>C