Canonical Allele Identifier: CA519278174

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420670-C-T
• MyVariant Identifiers: chrX:g.153649009C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420670C>T , CM000685.2:g.154420670C>T	GRCh38
NC_000023.10:g.153649009C>T , CM000685.1:g.153649009C>T	GRCh37
NC_000023.9:g.153302203C>T	NCBI36
NG_009634.1:g.14133C>T
NG_009634.2:g.14136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1522C>T
ENST00000698317.1:n.2138C>T
ENST00000698318.1:n.1921C>T
ENST00000698319.1:n.1284C>T
ENST00000698320.1:n.1172C>T
ENST00000470127.2:n.1185C>T
ENST00000475699.6:c.676C>T	ENSP00000419854.3:p.Leu226=
ENST00000483674.3:n.594C>T
ENST00000601016.6:c.712C>T MANE Select	ENSP00000469981.1:p.Leu238=
ENST00000612012.5:c.670C>T	ENSP00000482070.2:p.Leu224=
ENST00000612460.5:c.622C>T	ENSP00000481037.1:p.Leu208=
ENST00000614595.2:n.2059C>T
ENST00000615658.5:n.1301C>T
ENST00000616020.5:c.724C>T	ENSP00000483636.2:p.Leu242=
ENST00000617701.5:c.*725C>T	ENSP00000481645.1:n.*725C>T
ENST00000651139.1:c.-72C>T	ENSP00000498957.1:n.-72C>T
ENST00000652354.1:c.394C>T	ENSP00000498734.1:p.Leu132=
ENST00000652358.1:c.505C>T	ENSP00000498464.1:p.Leu169=
ENST00000652390.1:c.631C>T	ENSP00000498858.1:p.Leu211=
ENST00000652476.1:n.1378C>T
ENST00000652644.1:c.325C>T	ENSP00000498496.1:p.Leu109=
ENST00000652682.1:c.769C>T	ENSP00000498288.1:p.Leu257=
ENST00000652685.1:n.1065C>T
ENST00000369776.8:c.622C>T	ENSP00000358791.4:p.Leu208=
ENST00000426231.5:c.709C>T
ENST00000475699.5:c.670C>T	ENSP00000419854.2:p.Leu224=
ENST00000494912.5:n.1401C>T
ENST00000498029.1:n.170C>T
ENST00000601016.5:c.712C>T	ENSP00000469981.1:p.Leu238=
ENST00000612460.4:c.622C>T	ENSP00000481037.1:p.Leu208=
ENST00000613002.4:c.580C>T	ENSP00000478154.1:p.Leu194=
ENST00000615986.4:c.*440C>T	ENSP00000480133.1:n.*440C>T
NM_000116.4:c.712C>T	NP_000107.1:p.Leu238=
NM_001303465.1:c.724C>T	NP_001290394.1:p.Leu242=
NM_181311.3:c.622C>T	NP_851828.1:p.Leu208=
NM_181312.3:c.670C>T	NP_851829.1:p.Leu224=
NM_181313.3:c.580C>T	NP_851830.1:p.Leu194=
NR_024048.2:n.1054C>T
XM_006724836.1:c.766C>T	XP_006724899.1:p.Leu256=
XM_006724837.1:c.751C>T	XP_006724900.1:p.Leu251=
XM_006724839.1:c.634C>T	XP_006724902.1:p.Leu212=
XM_006724841.2:c.505C>T	XP_006724904.1:p.Leu169=
XM_006724842.2:c.415C>T	XP_006724905.1:p.Leu139=
XM_011531189.1:c.553C>T	XP_011529491.1:p.Leu185=
XM_011531190.1:c.505C>T	XP_011529492.1:p.Leu169=
XM_011531191.1:c.436C>T	XP_011529493.1:p.Leu146=
XM_011531192.1:c.433C>T	XP_011529494.1:p.Leu145=
XR_938511.1:n.1060C>T
XM_006724841.4:c.505C>T	XP_006724904.1:p.Leu169=
XM_006724842.4:c.415C>T	XP_006724905.1:p.Leu139=
XM_011531191.2:c.436C>T	XP_011529493.1:p.Leu146=
XM_017029761.1:c.697C>T	XP_016885250.1:p.Leu233=
XM_017029762.1:c.676C>T	XP_016885251.1:p.Leu226=
XM_017029763.1:c.499C>T	XP_016885252.1:p.Leu167=
XM_017029764.1:c.433C>T	XP_016885253.1:p.Leu145=
XM_017029765.2:c.373C>T	XP_016885254.1:p.Leu125=
XM_024452431.1:c.670C>T	XP_024308199.1:p.Leu224=
NM_000116.5:c.712C>T MANE Select	NP_000107.1:p.Leu238=
NM_001303465.2:c.724C>T	NP_001290394.1:p.Leu242=
NM_181311.4:c.622C>T	NP_851828.1:p.Leu208=
NM_181312.4:c.670C>T	NP_851829.1:p.Leu224=
NM_181313.4:c.580C>T	NP_851830.1:p.Leu194=
NR_024048.3:n.1033C>T