Canonical Allele Identifier: CA415184151

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648386T>C (hg19) ; chrX:g.154420047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420047T>C , CM000685.2:g.154420047T>C	GRCh38
NC_000023.10:g.153648386T>C , CM000685.1:g.153648386T>C	GRCh37
NC_000023.9:g.153301580T>C	NCBI36
NG_009634.1:g.13510T>C
NG_009634.2:g.13513T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1409T>C
ENST00000698317.1:n.2025T>C
ENST00000698318.1:n.1808T>C
ENST00000698319.1:n.1171T>C
ENST00000698320.1:n.1059T>C
ENST00000470127.2:n.1072T>C
ENST00000475699.6:c.563T>C	ENSP00000419854.3:p.Ile188Thr
ENST00000483674.3:n.481T>C
ENST00000601016.6:c.599T>C MANE Select	ENSP00000469981.1:p.Ile200Thr
ENST00000612012.5:c.557T>C	ENSP00000482070.2:p.Ile186Thr
ENST00000612460.5:c.509T>C	ENSP00000481037.1:p.Ile170Thr
ENST00000614595.2:n.1946T>C
ENST00000615658.5:n.1188T>C
ENST00000616020.5:c.611T>C	ENSP00000483636.2:p.Ile204Thr
ENST00000617701.5:c.*612T>C	ENSP00000481645.1:n.*612T>C
ENST00000652354.1:c.281T>C	ENSP00000498734.1:p.Ile94Thr
ENST00000652358.1:c.392T>C	ENSP00000498464.1:p.Ile131Thr
ENST00000652390.1:c.518T>C	ENSP00000498858.1:p.Ile173Thr
ENST00000652476.1:n.1265T>C
ENST00000652644.1:c.212T>C	ENSP00000498496.1:p.Ile71Thr
ENST00000652682.1:c.656T>C	ENSP00000498288.1:p.Ile219Thr
ENST00000652685.1:n.952T>C
ENST00000369776.8:c.392T>C	ENSP00000358791.4:p.Ile131Thr
ENST00000426231.5:c.596T>C
ENST00000439735.2:c.506T>C	ENSP00000398193.1:p.Ile169Thr
ENST00000470127.1:n.178T>C
ENST00000475699.5:c.557T>C	ENSP00000419854.2:p.Ile186Thr
ENST00000494912.5:n.1288T>C
ENST00000498029.1:n.57T>C
ENST00000601016.5:c.599T>C	ENSP00000469981.1:p.Ile200Thr
ENST00000612012.4:c.563T>C	ENSP00000482070.1:p.Ile188Thr
ENST00000612460.4:c.509T>C	ENSP00000481037.1:p.Ile170Thr
ENST00000613002.4:c.467T>C	ENSP00000478154.1:p.Ile156Thr
ENST00000615658.4:n.1288T>C
ENST00000615986.4:c.*327T>C	ENSP00000480133.1:n.*327T>C
ENST00000620808.4:c.*185T>C	ENSP00000479311.1:n.*185T>C
NM_000116.4:c.599T>C	NP_000107.1:p.Ile200Thr
NM_001303465.1:c.611T>C	NP_001290394.1:p.Ile204Thr
NM_181311.3:c.509T>C	NP_851828.1:p.Ile170Thr
NM_181312.3:c.557T>C	NP_851829.1:p.Ile186Thr
NM_181313.3:c.467T>C	NP_851830.1:p.Ile156Thr
NR_024048.2:n.941T>C
XM_006724836.1:c.653T>C	XP_006724899.1:p.Ile218Thr
XM_006724837.1:c.521T>C	XP_006724900.1:p.Ile174Thr
XM_006724839.1:c.521T>C	XP_006724902.1:p.Ile174Thr
XM_006724841.2:c.392T>C	XP_006724904.1:p.Ile131Thr
XM_006724842.2:c.302T>C	XP_006724905.1:p.Ile101Thr
XM_011531189.1:c.440T>C	XP_011529491.1:p.Ile147Thr
XM_011531190.1:c.392T>C	XP_011529492.1:p.Ile131Thr
XM_011531191.1:c.323T>C	XP_011529493.1:p.Ile108Thr
XM_011531192.1:c.320T>C	XP_011529494.1:p.Ile107Thr
XR_938511.1:n.947T>C
XM_006724841.4:c.392T>C	XP_006724904.1:p.Ile131Thr
XM_006724842.4:c.302T>C	XP_006724905.1:p.Ile101Thr
XM_011531191.2:c.323T>C	XP_011529493.1:p.Ile108Thr
XM_017029761.1:c.467T>C	XP_016885250.1:p.Ile156Thr
XM_017029762.1:c.563T>C	XP_016885251.1:p.Ile188Thr
XM_017029763.1:c.386T>C	XP_016885252.1:p.Ile129Thr
XM_017029764.1:c.320T>C	XP_016885253.1:p.Ile107Thr
XM_017029765.2:c.260T>C	XP_016885254.1:p.Ile87Thr
XM_024452431.1:c.440T>C	XP_024308199.1:p.Ile147Thr
NM_000116.5:c.599T>C MANE Select	NP_000107.1:p.Ile200Thr
NM_001303465.2:c.611T>C	NP_001290394.1:p.Ile204Thr
NM_181311.4:c.509T>C	NP_851828.1:p.Ile170Thr
NM_181312.4:c.557T>C	NP_851829.1:p.Ile186Thr
NM_181313.4:c.467T>C	NP_851830.1:p.Ile156Thr
NR_024048.3:n.920T>C