Canonical Allele Identifier: CA10562433

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1155559
• ClinVar RCV Id: RCV001497879
• dbSNP Id: rs368990588
• ExAC: X:153649068 G / A
• gnomAD v2: X-153649068-G-A
• gnomAD v3: X-154420729-G-A
• gnomAD v4: X-154420729-G-A
• MyVariant Identifiers: chrX:g.153649068G>A (hg19) ; chrX:g.154420729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420729G>A , CM000685.2:g.154420729G>A	GRCh38
NC_000023.10:g.153649068G>A , CM000685.1:g.153649068G>A	GRCh37
NC_000023.9:g.153302262G>A	NCBI36
NG_009634.1:g.14192G>A
NG_009634.2:g.14195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1581G>A
ENST00000698317.1:n.2197G>A
ENST00000698318.1:n.1980G>A
ENST00000698319.1:n.1343G>A
ENST00000698320.1:n.1231G>A
ENST00000470127.2:n.1244G>A
ENST00000475699.6:c.735G>A	ENSP00000419854.3:p.Lys245=
ENST00000483674.3:n.653G>A
ENST00000601016.6:c.771G>A MANE Select	ENSP00000469981.1:p.Lys257=
ENST00000612012.5:c.729G>A	ENSP00000482070.2:p.Lys243=
ENST00000612460.5:c.681G>A	ENSP00000481037.1:p.Lys227=
ENST00000614595.2:n.2118G>A
ENST00000615658.5:n.1360G>A
ENST00000616020.5:c.783G>A	ENSP00000483636.2:p.Lys261=
ENST00000617701.5:c.*784G>A	ENSP00000481645.1:n.*784G>A
ENST00000651139.1:c.-13G>A	ENSP00000498957.1:n.-13G>A
ENST00000652354.1:c.453G>A	ENSP00000498734.1:p.Lys151=
ENST00000652358.1:c.564G>A	ENSP00000498464.1:p.Lys188=
ENST00000652390.1:c.690G>A	ENSP00000498858.1:p.Lys230=
ENST00000652476.1:n.1437G>A
ENST00000652644.1:c.384G>A	ENSP00000498496.1:p.Lys128=
ENST00000652682.1:c.828G>A	ENSP00000498288.1:p.Lys276=
ENST00000652685.1:n.1124G>A
ENST00000369776.8:c.681G>A	ENSP00000358791.4:p.Lys227=
ENST00000426231.5:c.768G>A
ENST00000475699.5:c.729G>A	ENSP00000419854.2:p.Lys243=
ENST00000494912.5:n.1460G>A
ENST00000498029.1:n.229G>A
ENST00000601016.5:c.771G>A	ENSP00000469981.1:p.Lys257=
ENST00000612460.4:c.681G>A	ENSP00000481037.1:p.Lys227=
ENST00000613002.4:c.639G>A	ENSP00000478154.1:p.Lys213=
ENST00000615986.4:c.*499G>A	ENSP00000480133.1:n.*499G>A
NM_000116.4:c.771G>A	NP_000107.1:p.Lys257=
NM_001303465.1:c.783G>A	NP_001290394.1:p.Lys261=
NM_181311.3:c.681G>A	NP_851828.1:p.Lys227=
NM_181312.3:c.729G>A	NP_851829.1:p.Lys243=
NM_181313.3:c.639G>A	NP_851830.1:p.Lys213=
NR_024048.2:n.1113G>A
XM_006724836.1:c.825G>A	XP_006724899.1:p.Lys275=
XM_006724837.1:c.810G>A	XP_006724900.1:p.Lys270=
XM_006724839.1:c.693G>A	XP_006724902.1:p.Lys231=
XM_006724841.2:c.564G>A	XP_006724904.1:p.Lys188=
XM_006724842.2:c.474G>A	XP_006724905.1:p.Lys158=
XM_011531189.1:c.612G>A	XP_011529491.1:p.Lys204=
XM_011531190.1:c.564G>A	XP_011529492.1:p.Lys188=
XM_011531191.1:c.495G>A	XP_011529493.1:p.Lys165=
XM_011531192.1:c.492G>A	XP_011529494.1:p.Lys164=
XR_938511.1:n.1119G>A
XM_006724841.4:c.564G>A	XP_006724904.1:p.Lys188=
XM_006724842.4:c.474G>A	XP_006724905.1:p.Lys158=
XM_011531191.2:c.495G>A	XP_011529493.1:p.Lys165=
XM_017029761.1:c.756G>A	XP_016885250.1:p.Lys252=
XM_017029762.1:c.735G>A	XP_016885251.1:p.Lys245=
XM_017029763.1:c.558G>A	XP_016885252.1:p.Lys186=
XM_017029764.1:c.492G>A	XP_016885253.1:p.Lys164=
XM_017029765.2:c.432G>A	XP_016885254.1:p.Lys144=
XM_024452431.1:c.729G>A	XP_024308199.1:p.Lys243=
NM_000116.5:c.771G>A MANE Select	NP_000107.1:p.Lys257=
NM_001303465.2:c.783G>A	NP_001290394.1:p.Lys261=
NM_181311.4:c.681G>A	NP_851828.1:p.Lys227=
NM_181312.4:c.729G>A	NP_851829.1:p.Lys243=
NM_181313.4:c.639G>A	NP_851830.1:p.Lys213=
NR_024048.3:n.1092G>A