Canonical Allele Identifier: CA519277462

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs782364420
• gnomAD v2: X-153641545-G-T
• MyVariant Identifiers: chrX:g.153641545G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413208G>T , CM000685.2:g.154413208G>T	GRCh38
NC_000023.10:g.153641545G>T , CM000685.1:g.153641545G>T	GRCh37
NC_000023.9:g.153294739G>T	NCBI36
NG_009634.1:g.6669G>T
NG_012884.2:g.3881C>A
NG_009634.2:g.6674G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.668G>T
ENST00000698235.1:n.227G>T
ENST00000698317.1:n.1194G>T
ENST00000698318.1:n.1055G>T
ENST00000470127.2:n.289G>T
ENST00000475699.6:c.294G>T	ENSP00000419854.3:p.Gly98=
ENST00000476800.2:n.1197G>T
ENST00000483674.3:n.131G>T
ENST00000601016.6:c.240G>T MANE Select	ENSP00000469981.1:p.Gly80=
ENST00000612012.5:c.240G>T	ENSP00000482070.2:p.Gly80=
ENST00000612460.5:c.240G>T	ENSP00000481037.1:p.Gly80=
ENST00000614595.2:n.1590G>T
ENST00000615658.5:n.553G>T
ENST00000616020.5:c.294G>T	ENSP00000483636.2:p.Gly98=
ENST00000617701.5:c.240G>T	ENSP00000481645.1:p.Gly80=
ENST00000621647.2:n.293G>T
ENST00000652354.1:c.-37G>T	ENSP00000498734.1:n.-37G>T
ENST00000652358.1:c.-55G>T	ENSP00000498464.1:n.-55G>T
ENST00000652390.1:c.159G>T	ENSP00000498858.1:p.Gly53=
ENST00000652476.1:n.401G>T
ENST00000652682.1:c.240G>T	ENSP00000498288.1:p.Gly80=
ENST00000652685.1:n.292G>T
ENST00000369776.8:c.165G>T	ENSP00000358791.4:p.Gly55=
ENST00000426231.5:c.56G>T
ENST00000439735.2:c.240G>T	ENSP00000398193.1:p.Gly80=
ENST00000475699.5:c.240G>T	ENSP00000419854.2:p.Gly80=
ENST00000476679.5:n.153G>T
ENST00000476800.1:n.118G>T
ENST00000479875.1:n.269G>T
ENST00000483780.5:n.14G>T
ENST00000601016.5:c.240G>T	ENSP00000469981.1:p.Gly80=
ENST00000612012.4:c.294G>T	ENSP00000482070.1:p.Gly98=
ENST00000612460.4:c.240G>T	ENSP00000481037.1:p.Gly80=
ENST00000613002.4:c.240G>T	ENSP00000478154.1:p.Gly80=
ENST00000613634.4:n.560G>T
ENST00000615658.4:n.566G>T
ENST00000615986.4:c.240G>T	ENSP00000480133.1:p.Gly80=
ENST00000616020.4:c.294G>T	ENSP00000483636.1:p.Gly98=
ENST00000617701.4:c.240G>T	ENSP00000481645.1:p.Gly80=
ENST00000620808.4:c.240G>T	ENSP00000479311.1:p.Gly80=
ENST00000621647.1:n.525G>T
NM_000116.4:c.240G>T	NP_000107.1:p.Gly80=
NM_001303465.1:c.294G>T	NP_001290394.1:p.Gly98=
NM_181311.3:c.240G>T	NP_851828.1:p.Gly80=
NM_181312.3:c.240G>T	NP_851829.1:p.Gly80=
NM_181313.3:c.240G>T	NP_851830.1:p.Gly80=
NR_024048.2:n.566G>T
XM_006724836.1:c.294G>T	XP_006724899.1:p.Gly98=
XM_006724837.1:c.294G>T	XP_006724900.1:p.Gly98=
XM_006724839.1:c.294G>T	XP_006724902.1:p.Gly98=
XM_006724841.2:c.-55G>T	XP_006724904.1:n.-55G>T
XM_006724842.2:c.-55G>T	XP_006724905.1:n.-55G>T
XM_011531189.1:c.294G>T	XP_011529491.1:p.Gly98=
XM_011531190.1:c.-55G>T	XP_011529492.1:n.-55G>T
XM_011531191.1:c.-37G>T	XP_011529493.1:n.-37G>T
XM_011531192.1:c.-158G>T	XP_011529494.1:n.-158G>T
XR_938511.1:n.597G>T
XM_006724841.4:c.-55G>T	XP_006724904.1:n.-55G>T
XM_006724842.4:c.-55G>T	XP_006724905.1:n.-55G>T
XM_011531191.2:c.-37G>T	XP_011529493.1:n.-37G>T
XM_017029761.1:c.240G>T	XP_016885250.1:p.Gly80=
XM_017029762.1:c.294G>T	XP_016885251.1:p.Gly98=
XM_017029763.1:c.240G>T	XP_016885252.1:p.Gly80=
XM_017029765.2:c.-55G>T	XP_016885254.1:n.-55G>T
XM_024452431.1:c.294G>T	XP_024308199.1:p.Gly98=
NM_000116.5:c.240G>T MANE Select	NP_000107.1:p.Gly80=
NM_001303465.2:c.294G>T	NP_001290394.1:p.Gly98=
NM_181311.4:c.240G>T	NP_851828.1:p.Gly80=
NM_181312.4:c.240G>T	NP_851829.1:p.Gly80=
NM_181313.4:c.240G>T	NP_851830.1:p.Gly80=
NR_024048.3:n.545G>T