Canonical Allele Identifier: CA415184012

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 559336
• ClinVar RCV Id: RCV000676908 ; RCV001844221
• dbSNP Id: rs878853656
• MyVariant Identifiers: chrX:g.153648085G>T (hg19) ; chrX:g.154419746G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419746G>T , CM000685.2:g.154419746G>T	GRCh38
NC_000023.10:g.153648085G>T , CM000685.1:g.153648085G>T	GRCh37
NC_000023.9:g.153301279G>T	NCBI36
NG_009634.1:g.13209G>T
NG_009634.2:g.13212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1108G>T
ENST00000698317.1:n.1724G>T
ENST00000698318.1:n.1507G>T
ENST00000698319.1:n.870G>T
ENST00000698320.1:n.758G>T
ENST00000470127.2:n.771G>T
ENST00000475699.6:c.547G>T	ENSP00000419854.3:p.Gly183Ter
ENST00000483674.3:n.465G>T
ENST00000601016.6:c.583G>T MANE Select	ENSP00000469981.1:p.Gly195Ter
ENST00000612012.5:c.541+123G>T	ENSP00000482070.2:n.541+123G>T
ENST00000612460.5:c.493G>T	ENSP00000481037.1:p.Gly165Ter
ENST00000614595.2:n.1930G>T
ENST00000615658.5:n.887G>T
ENST00000616020.5:c.595+123G>T	ENSP00000483636.2:n.595+123G>T
ENST00000617701.5:c.*311G>T	ENSP00000481645.1:n.*311G>T
ENST00000652354.1:c.265+123G>T	ENSP00000498734.1:n.265+123G>T
ENST00000652358.1:c.376G>T	ENSP00000498464.1:p.Gly126Ter
ENST00000652390.1:c.502G>T	ENSP00000498858.1:p.Gly168Ter
ENST00000652476.1:n.964G>T
ENST00000652644.1:c.196G>T	ENSP00000498496.1:p.Gly66Ter
ENST00000652682.1:c.640G>T	ENSP00000498288.1:p.Gly214Ter
ENST00000652685.1:n.651G>T
ENST00000369776.8:c.376+123G>T	ENSP00000358791.4:n.376+123G>T
ENST00000426231.5:c.580G>T
ENST00000439735.2:c.490G>T	ENSP00000398193.1:p.Gly164Ter
ENST00000470127.1:n.162G>T
ENST00000475699.5:c.541+123G>T	ENSP00000419854.2:n.541+123G>T
ENST00000476679.5:n.577G>T
ENST00000483780.5:n.348G>T
ENST00000494912.5:n.1272G>T
ENST00000601016.5:c.583G>T	ENSP00000469981.1:p.Gly195Ter
ENST00000612012.4:c.547G>T	ENSP00000482070.1:p.Gly183Ter
ENST00000612460.4:c.493G>T	ENSP00000481037.1:p.Gly165Ter
ENST00000613002.4:c.451+123G>T	ENSP00000478154.1:n.451+123G>T
ENST00000613634.4:n.813G>T
ENST00000615658.4:n.987G>T
ENST00000615986.4:c.*311G>T	ENSP00000480133.1:n.*311G>T
ENST00000620808.4:c.*170-286G>T	ENSP00000479311.1:n.*170-286G>T
NM_000116.4:c.583G>T	NP_000107.1:p.Gly195Ter
NM_001303465.1:c.595+123G>T	NP_001290394.1:n.595+123G>T
NM_181311.3:c.493G>T	NP_851828.1:p.Gly165Ter
NM_181312.3:c.541+123G>T	NP_851829.1:n.541+123G>T
NM_181313.3:c.451+123G>T	NP_851830.1:n.451+123G>T
NR_024048.2:n.925G>T
XM_006724836.1:c.637G>T	XP_006724899.1:p.Gly213Ter
XM_006724837.1:c.505+123G>T	XP_006724900.1:n.505+123G>T
XM_006724839.1:c.505+123G>T	XP_006724902.1:n.505+123G>T
XM_006724841.2:c.376G>T	XP_006724904.1:p.Gly126Ter
XM_006724842.2:c.286G>T	XP_006724905.1:p.Gly96Ter
XM_011531189.1:c.425-286G>T	XP_011529491.1:n.425-286G>T
XM_011531190.1:c.376G>T	XP_011529492.1:p.Gly126Ter
XM_011531191.1:c.307G>T	XP_011529493.1:p.Gly103Ter
XM_011531192.1:c.304G>T	XP_011529494.1:p.Gly102Ter
XR_938511.1:n.931G>T
XM_006724841.4:c.376G>T	XP_006724904.1:p.Gly126Ter
XM_006724842.4:c.286G>T	XP_006724905.1:p.Gly96Ter
XM_011531191.2:c.307G>T	XP_011529493.1:p.Gly103Ter
XM_017029761.1:c.451+123G>T	XP_016885250.1:n.451+123G>T
XM_017029762.1:c.547G>T	XP_016885251.1:p.Gly183Ter
XM_017029763.1:c.371-286G>T	XP_016885252.1:n.371-286G>T
XM_017029764.1:c.304G>T	XP_016885253.1:p.Gly102Ter
XM_017029765.2:c.244+123G>T	XP_016885254.1:n.244+123G>T
XM_024452431.1:c.425-286G>T	XP_024308199.1:n.425-286G>T
NM_000116.5:c.583G>T MANE Select	NP_000107.1:p.Gly195Ter
NM_001303465.2:c.595+123G>T	NP_001290394.1:n.595+123G>T
NM_181311.4:c.493G>T	NP_851828.1:p.Gly165Ter
NM_181312.4:c.541+123G>T	NP_851829.1:n.541+123G>T
NM_181313.4:c.451+123G>T	NP_851830.1:n.451+123G>T
NR_024048.3:n.904G>T