Canonical Allele Identifier: CA415184310

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648410T>C (hg19) ; chrX:g.154420071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420071T>C , CM000685.2:g.154420071T>C	GRCh38
NC_000023.10:g.153648410T>C , CM000685.1:g.153648410T>C	GRCh37
NC_000023.9:g.153301604T>C	NCBI36
NG_009634.1:g.13534T>C
NG_009634.2:g.13537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1433T>C
ENST00000698317.1:n.2049T>C
ENST00000698318.1:n.1832T>C
ENST00000698319.1:n.1195T>C
ENST00000698320.1:n.1083T>C
ENST00000470127.2:n.1096T>C
ENST00000475699.6:c.587T>C	ENSP00000419854.3:p.Ile196Thr
ENST00000483674.3:n.505T>C
ENST00000601016.6:c.623T>C MANE Select	ENSP00000469981.1:p.Ile208Thr
ENST00000612012.5:c.581T>C	ENSP00000482070.2:p.Ile194Thr
ENST00000612460.5:c.533T>C	ENSP00000481037.1:p.Ile178Thr
ENST00000614595.2:n.1970T>C
ENST00000615658.5:n.1212T>C
ENST00000616020.5:c.635T>C	ENSP00000483636.2:p.Ile212Thr
ENST00000617701.5:c.*636T>C	ENSP00000481645.1:n.*636T>C
ENST00000652354.1:c.305T>C	ENSP00000498734.1:p.Ile102Thr
ENST00000652358.1:c.416T>C	ENSP00000498464.1:p.Ile139Thr
ENST00000652390.1:c.542T>C	ENSP00000498858.1:p.Ile181Thr
ENST00000652476.1:n.1289T>C
ENST00000652644.1:c.236T>C	ENSP00000498496.1:p.Ile79Thr
ENST00000652682.1:c.680T>C	ENSP00000498288.1:p.Ile227Thr
ENST00000652685.1:n.976T>C
ENST00000369776.8:c.416T>C	ENSP00000358791.4:p.Ile139Thr
ENST00000426231.5:c.620T>C
ENST00000439735.2:c.530T>C	ENSP00000398193.1:p.Ile177Thr
ENST00000470127.1:n.202T>C
ENST00000475699.5:c.581T>C	ENSP00000419854.2:p.Ile194Thr
ENST00000494912.5:n.1312T>C
ENST00000498029.1:n.81T>C
ENST00000601016.5:c.623T>C	ENSP00000469981.1:p.Ile208Thr
ENST00000612012.4:c.587T>C	ENSP00000482070.1:p.Ile196Thr
ENST00000612460.4:c.533T>C	ENSP00000481037.1:p.Ile178Thr
ENST00000613002.4:c.491T>C	ENSP00000478154.1:p.Ile164Thr
ENST00000615658.4:n.1312T>C
ENST00000615986.4:c.*351T>C	ENSP00000480133.1:n.*351T>C
ENST00000620808.4:c.*209T>C	ENSP00000479311.1:n.*209T>C
NM_000116.4:c.623T>C	NP_000107.1:p.Ile208Thr
NM_001303465.1:c.635T>C	NP_001290394.1:p.Ile212Thr
NM_181311.3:c.533T>C	NP_851828.1:p.Ile178Thr
NM_181312.3:c.581T>C	NP_851829.1:p.Ile194Thr
NM_181313.3:c.491T>C	NP_851830.1:p.Ile164Thr
NR_024048.2:n.965T>C
XM_006724836.1:c.677T>C	XP_006724899.1:p.Ile226Thr
XM_006724837.1:c.545T>C	XP_006724900.1:p.Ile182Thr
XM_006724839.1:c.545T>C	XP_006724902.1:p.Ile182Thr
XM_006724841.2:c.416T>C	XP_006724904.1:p.Ile139Thr
XM_006724842.2:c.326T>C	XP_006724905.1:p.Ile109Thr
XM_011531189.1:c.464T>C	XP_011529491.1:p.Ile155Thr
XM_011531190.1:c.416T>C	XP_011529492.1:p.Ile139Thr
XM_011531191.1:c.347T>C	XP_011529493.1:p.Ile116Thr
XM_011531192.1:c.344T>C	XP_011529494.1:p.Ile115Thr
XR_938511.1:n.971T>C
XM_006724841.4:c.416T>C	XP_006724904.1:p.Ile139Thr
XM_006724842.4:c.326T>C	XP_006724905.1:p.Ile109Thr
XM_011531191.2:c.347T>C	XP_011529493.1:p.Ile116Thr
XM_017029761.1:c.491T>C	XP_016885250.1:p.Ile164Thr
XM_017029762.1:c.587T>C	XP_016885251.1:p.Ile196Thr
XM_017029763.1:c.410T>C	XP_016885252.1:p.Ile137Thr
XM_017029764.1:c.344T>C	XP_016885253.1:p.Ile115Thr
XM_017029765.2:c.284T>C	XP_016885254.1:p.Ile95Thr
XM_024452431.1:c.464T>C	XP_024308199.1:p.Ile155Thr
NM_000116.5:c.623T>C MANE Select	NP_000107.1:p.Ile208Thr
NM_001303465.2:c.635T>C	NP_001290394.1:p.Ile212Thr
NM_181311.4:c.533T>C	NP_851828.1:p.Ile178Thr
NM_181312.4:c.581T>C	NP_851829.1:p.Ile194Thr
NM_181313.4:c.491T>C	NP_851830.1:p.Ile164Thr
NR_024048.3:n.944T>C