Canonical Allele Identifier: CA10562384

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1108295
• ClinVar RCV Id: RCV001433760
• dbSNP Id: rs150583937
• ExAC: X:153648378 G / T
• gnomAD v2: X-153648378-G-T
• gnomAD v3: X-154420039-G-T
• gnomAD v4: X-154420039-G-T
• MyVariant Identifiers: chrX:g.153648378G>T (hg19) ; chrX:g.154420039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420039G>T , CM000685.2:g.154420039G>T	GRCh38
NC_000023.10:g.153648378G>T , CM000685.1:g.153648378G>T	GRCh37
NC_000023.9:g.153301572G>T	NCBI36
NG_009634.1:g.13502G>T
NG_009634.2:g.13505G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1401G>T
ENST00000698317.1:n.2017G>T
ENST00000698318.1:n.1800G>T
ENST00000698319.1:n.1163G>T
ENST00000698320.1:n.1051G>T
ENST00000470127.2:n.1064G>T
ENST00000475699.6:c.555G>T	ENSP00000419854.3:p.Gly185=
ENST00000483674.3:n.473G>T
ENST00000601016.6:c.591G>T MANE Select	ENSP00000469981.1:p.Gly197=
ENST00000612012.5:c.549G>T	ENSP00000482070.2:p.Gly183=
ENST00000612460.5:c.501G>T	ENSP00000481037.1:p.Gly167=
ENST00000614595.2:n.1938G>T
ENST00000615658.5:n.1180G>T
ENST00000616020.5:c.603G>T	ENSP00000483636.2:p.Gly201=
ENST00000617701.5:c.*604G>T	ENSP00000481645.1:n.*604G>T
ENST00000652354.1:c.273G>T	ENSP00000498734.1:p.Gly91=
ENST00000652358.1:c.384G>T	ENSP00000498464.1:p.Gly128=
ENST00000652390.1:c.510G>T	ENSP00000498858.1:p.Gly170=
ENST00000652476.1:n.1257G>T
ENST00000652644.1:c.204G>T	ENSP00000498496.1:p.Gly68=
ENST00000652682.1:c.648G>T	ENSP00000498288.1:p.Gly216=
ENST00000652685.1:n.944G>T
ENST00000369776.8:c.384G>T	ENSP00000358791.4:p.Gly128=
ENST00000426231.5:c.588G>T
ENST00000439735.2:c.498G>T	ENSP00000398193.1:p.Gly166=
ENST00000470127.1:n.170G>T
ENST00000475699.5:c.549G>T	ENSP00000419854.2:p.Gly183=
ENST00000494912.5:n.1280G>T
ENST00000498029.1:n.49G>T
ENST00000601016.5:c.591G>T	ENSP00000469981.1:p.Gly197=
ENST00000612012.4:c.555G>T	ENSP00000482070.1:p.Gly185=
ENST00000612460.4:c.501G>T	ENSP00000481037.1:p.Gly167=
ENST00000613002.4:c.459G>T	ENSP00000478154.1:p.Gly153=
ENST00000613634.4:n.1106G>T
ENST00000615658.4:n.1280G>T
ENST00000615986.4:c.*319G>T	ENSP00000480133.1:n.*319G>T
ENST00000620808.4:c.*177G>T	ENSP00000479311.1:n.*177G>T
NM_000116.4:c.591G>T	NP_000107.1:p.Gly197=
NM_001303465.1:c.603G>T	NP_001290394.1:p.Gly201=
NM_181311.3:c.501G>T	NP_851828.1:p.Gly167=
NM_181312.3:c.549G>T	NP_851829.1:p.Gly183=
NM_181313.3:c.459G>T	NP_851830.1:p.Gly153=
NR_024048.2:n.933G>T
XM_006724836.1:c.645G>T	XP_006724899.1:p.Gly215=
XM_006724837.1:c.513G>T	XP_006724900.1:p.Gly171=
XM_006724839.1:c.513G>T	XP_006724902.1:p.Gly171=
XM_006724841.2:c.384G>T	XP_006724904.1:p.Gly128=
XM_006724842.2:c.294G>T	XP_006724905.1:p.Gly98=
XM_011531189.1:c.432G>T	XP_011529491.1:p.Gly144=
XM_011531190.1:c.384G>T	XP_011529492.1:p.Gly128=
XM_011531191.1:c.315G>T	XP_011529493.1:p.Gly105=
XM_011531192.1:c.312G>T	XP_011529494.1:p.Gly104=
XR_938511.1:n.939G>T
XM_006724841.4:c.384G>T	XP_006724904.1:p.Gly128=
XM_006724842.4:c.294G>T	XP_006724905.1:p.Gly98=
XM_011531191.2:c.315G>T	XP_011529493.1:p.Gly105=
XM_017029761.1:c.459G>T	XP_016885250.1:p.Gly153=
XM_017029762.1:c.555G>T	XP_016885251.1:p.Gly185=
XM_017029763.1:c.378G>T	XP_016885252.1:p.Gly126=
XM_017029764.1:c.312G>T	XP_016885253.1:p.Gly104=
XM_017029765.2:c.252G>T	XP_016885254.1:p.Gly84=
XM_024452431.1:c.432G>T	XP_024308199.1:p.Gly144=
NM_000116.5:c.591G>T MANE Select	NP_000107.1:p.Gly197=
NM_001303465.2:c.603G>T	NP_001290394.1:p.Gly201=
NM_181311.4:c.501G>T	NP_851828.1:p.Gly167=
NM_181312.4:c.549G>T	NP_851829.1:p.Gly183=
NM_181313.4:c.459G>T	NP_851830.1:p.Gly153=
NR_024048.3:n.912G>T