Canonical Allele Identifier: CA519277672

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154413554-G-T
• MyVariant Identifiers: chrX:g.153641891G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413554G>T , CM000685.2:g.154413554G>T	GRCh38
NC_000023.10:g.153641891G>T , CM000685.1:g.153641891G>T	GRCh37
NC_000023.9:g.153295085G>T	NCBI36
NG_009634.1:g.7015G>T
NG_012884.2:g.3535C>A
NG_009634.2:g.7020G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.891G>T
ENST00000698235.1:n.431G>T
ENST00000698317.1:n.1417G>T
ENST00000698318.1:n.1290G>T
ENST00000470127.2:n.635G>T
ENST00000475699.6:c.411G>T	ENSP00000419854.3:p.Val137=
ENST00000476800.2:n.1543G>T
ENST00000483674.3:n.248G>T
ENST00000601016.6:c.357G>T MANE Select	ENSP00000469981.1:p.Val119=
ENST00000612012.5:c.357G>T	ENSP00000482070.2:p.Val119=
ENST00000612460.5:c.357G>T	ENSP00000481037.1:p.Val119=
ENST00000614595.2:n.1794G>T
ENST00000615658.5:n.670G>T
ENST00000616020.5:c.411G>T	ENSP00000483636.2:p.Val137=
ENST00000617701.5:c.*175G>T	ENSP00000481645.1:n.*175G>T
ENST00000621647.2:n.639G>T
ENST00000652354.1:c.81G>T	ENSP00000498734.1:p.Val27=
ENST00000652358.1:c.150G>T	ENSP00000498464.1:p.Val50=
ENST00000652390.1:c.276G>T	ENSP00000498858.1:p.Val92=
ENST00000652476.1:n.747G>T
ENST00000652644.1:c.3G>T	ENSP00000498496.1:p.Val1=
ENST00000652682.1:c.357G>T	ENSP00000498288.1:p.Val119=
ENST00000652685.1:n.515G>T
ENST00000369776.8:c.282G>T	ENSP00000358791.4:p.Val94=
ENST00000426231.5:c.273G>T
ENST00000439735.2:c.357G>T	ENSP00000398193.1:p.Val119=
ENST00000470127.1:n.26G>T
ENST00000475699.5:c.357G>T	ENSP00000419854.2:p.Val119=
ENST00000476679.5:n.270G>T
ENST00000476800.1:n.464G>T
ENST00000479875.1:n.386G>T
ENST00000483674.2:n.66G>T
ENST00000483780.5:n.131G>T
ENST00000601016.5:c.357G>T	ENSP00000469981.1:p.Val119=
ENST00000612012.4:c.411G>T	ENSP00000482070.1:p.Val137=
ENST00000612460.4:c.357G>T	ENSP00000481037.1:p.Val119=
ENST00000613002.4:c.357G>T	ENSP00000478154.1:p.Val119=
ENST00000613634.4:n.677G>T
ENST00000615658.4:n.770G>T
ENST00000615986.4:c.*175G>T	ENSP00000480133.1:n.*175G>T
ENST00000616020.4:c.411G>T	ENSP00000483636.1:p.Val137=
ENST00000617701.4:c.*187G>T	ENSP00000481645.1:n.*187G>T
ENST00000620808.4:c.*156G>T	ENSP00000479311.1:n.*156G>T
ENST00000621647.1:n.871G>T
NM_000116.4:c.357G>T	NP_000107.1:p.Val119=
NM_001303465.1:c.411G>T	NP_001290394.1:p.Val137=
NM_181311.3:c.357G>T	NP_851828.1:p.Val119=
NM_181312.3:c.357G>T	NP_851829.1:p.Val119=
NM_181313.3:c.357G>T	NP_851830.1:p.Val119=
NR_024048.2:n.789G>T
XM_006724836.1:c.411G>T	XP_006724899.1:p.Val137=
XM_006724837.1:c.411G>T	XP_006724900.1:p.Val137=
XM_006724839.1:c.411G>T	XP_006724902.1:p.Val137=
XM_006724841.2:c.150G>T	XP_006724904.1:p.Val50=
XM_006724842.2:c.150G>T	XP_006724905.1:p.Val50=
XM_011531189.1:c.411G>T	XP_011529491.1:p.Val137=
XM_011531190.1:c.150G>T	XP_011529492.1:p.Val50=
XM_011531191.1:c.81G>T	XP_011529493.1:p.Val27=
XM_011531192.1:c.78G>T	XP_011529494.1:p.Val26=
XR_938511.1:n.714G>T
XM_006724841.4:c.150G>T	XP_006724904.1:p.Val50=
XM_006724842.4:c.150G>T	XP_006724905.1:p.Val50=
XM_011531191.2:c.81G>T	XP_011529493.1:p.Val27=
XM_017029761.1:c.357G>T	XP_016885250.1:p.Val119=
XM_017029762.1:c.411G>T	XP_016885251.1:p.Val137=
XM_017029763.1:c.357G>T	XP_016885252.1:p.Val119=
XM_017029764.1:c.78G>T	XP_016885253.1:p.Val26=
XM_017029765.2:c.150G>T	XP_016885254.1:p.Val50=
XM_024452431.1:c.411G>T	XP_024308199.1:p.Val137=
NM_000116.5:c.357G>T MANE Select	NP_000107.1:p.Val119=
NM_001303465.2:c.411G>T	NP_001290394.1:p.Val137=
NM_181311.4:c.357G>T	NP_851828.1:p.Val119=
NM_181312.4:c.357G>T	NP_851829.1:p.Val119=
NM_181313.4:c.357G>T	NP_851830.1:p.Val119=
NR_024048.3:n.768G>T