Canonical Allele Identifier: CA10562383

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1799623
• ClinVar RCV Id: RCV002463264 ; RCV003103040
• dbSNP Id: rs782339790
• ExAC: X:153648375 C / T
• gnomAD v2: X-153648375-C-T
• gnomAD v4: X-154420036-C-T
• MyVariant Identifiers: chrX:g.153648375C>T (hg19) ; chrX:g.154420036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420036C>T , CM000685.2:g.154420036C>T	GRCh38
NC_000023.10:g.153648375C>T , CM000685.1:g.153648375C>T	GRCh37
NC_000023.9:g.153301569C>T	NCBI36
NG_009634.1:g.13499C>T
NG_009634.2:g.13502C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1398C>T
ENST00000698317.1:n.2014C>T
ENST00000698318.1:n.1797C>T
ENST00000698319.1:n.1160C>T
ENST00000698320.1:n.1048C>T
ENST00000470127.2:n.1061C>T
ENST00000475699.6:c.552C>T	ENSP00000419854.3:p.Ile184=
ENST00000483674.3:n.470C>T
ENST00000601016.6:c.588C>T MANE Select	ENSP00000469981.1:p.Ile196=
ENST00000612012.5:c.546C>T	ENSP00000482070.2:p.Ile182=
ENST00000612460.5:c.498C>T	ENSP00000481037.1:p.Ile166=
ENST00000614595.2:n.1935C>T
ENST00000615658.5:n.1177C>T
ENST00000616020.5:c.600C>T	ENSP00000483636.2:p.Ile200=
ENST00000617701.5:c.*601C>T	ENSP00000481645.1:n.*601C>T
ENST00000652354.1:c.270C>T	ENSP00000498734.1:p.Ile90=
ENST00000652358.1:c.381C>T	ENSP00000498464.1:p.Ile127=
ENST00000652390.1:c.507C>T	ENSP00000498858.1:p.Ile169=
ENST00000652476.1:n.1254C>T
ENST00000652644.1:c.201C>T	ENSP00000498496.1:p.Ile67=
ENST00000652682.1:c.645C>T	ENSP00000498288.1:p.Ile215=
ENST00000652685.1:n.941C>T
ENST00000369776.8:c.381C>T	ENSP00000358791.4:p.Ile127=
ENST00000426231.5:c.585C>T
ENST00000439735.2:c.495C>T	ENSP00000398193.1:p.Ile165=
ENST00000470127.1:n.167C>T
ENST00000475699.5:c.546C>T	ENSP00000419854.2:p.Ile182=
ENST00000494912.5:n.1277C>T
ENST00000498029.1:n.46C>T
ENST00000601016.5:c.588C>T	ENSP00000469981.1:p.Ile196=
ENST00000612012.4:c.552C>T	ENSP00000482070.1:p.Ile184=
ENST00000612460.4:c.498C>T	ENSP00000481037.1:p.Ile166=
ENST00000613002.4:c.456C>T	ENSP00000478154.1:p.Ile152=
ENST00000613634.4:n.1103C>T
ENST00000615658.4:n.1277C>T
ENST00000615986.4:c.*316C>T	ENSP00000480133.1:n.*316C>T
ENST00000620808.4:c.*174C>T	ENSP00000479311.1:n.*174C>T
NM_000116.4:c.588C>T	NP_000107.1:p.Ile196=
NM_001303465.1:c.600C>T	NP_001290394.1:p.Ile200=
NM_181311.3:c.498C>T	NP_851828.1:p.Ile166=
NM_181312.3:c.546C>T	NP_851829.1:p.Ile182=
NM_181313.3:c.456C>T	NP_851830.1:p.Ile152=
NR_024048.2:n.930C>T
XM_006724836.1:c.642C>T	XP_006724899.1:p.Ile214=
XM_006724837.1:c.510C>T	XP_006724900.1:p.Ile170=
XM_006724839.1:c.510C>T	XP_006724902.1:p.Ile170=
XM_006724841.2:c.381C>T	XP_006724904.1:p.Ile127=
XM_006724842.2:c.291C>T	XP_006724905.1:p.Ile97=
XM_011531189.1:c.429C>T	XP_011529491.1:p.Ile143=
XM_011531190.1:c.381C>T	XP_011529492.1:p.Ile127=
XM_011531191.1:c.312C>T	XP_011529493.1:p.Ile104=
XM_011531192.1:c.309C>T	XP_011529494.1:p.Ile103=
XR_938511.1:n.936C>T
XM_006724841.4:c.381C>T	XP_006724904.1:p.Ile127=
XM_006724842.4:c.291C>T	XP_006724905.1:p.Ile97=
XM_011531191.2:c.312C>T	XP_011529493.1:p.Ile104=
XM_017029761.1:c.456C>T	XP_016885250.1:p.Ile152=
XM_017029762.1:c.552C>T	XP_016885251.1:p.Ile184=
XM_017029763.1:c.375C>T	XP_016885252.1:p.Ile125=
XM_017029764.1:c.309C>T	XP_016885253.1:p.Ile103=
XM_017029765.2:c.249C>T	XP_016885254.1:p.Ile83=
XM_024452431.1:c.429C>T	XP_024308199.1:p.Ile143=
NM_000116.5:c.588C>T MANE Select	NP_000107.1:p.Ile196=
NM_001303465.2:c.600C>T	NP_001290394.1:p.Ile200=
NM_181311.4:c.498C>T	NP_851828.1:p.Ile166=
NM_181312.4:c.546C>T	NP_851829.1:p.Ile182=
NM_181313.4:c.456C>T	NP_851830.1:p.Ile152=
NR_024048.3:n.909C>T