Canonical Allele Identifier: CA415184148

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1409T>A
ENST00000698317.1:n.2025T>A
ENST00000698318.1:n.1808T>A
ENST00000698319.1:n.1171T>A
ENST00000698320.1:n.1059T>A
ENST00000470127.2:n.1072T>A
ENST00000475699.6:c.563T>A	ENSP00000419854.3:p.Ile188Asn
ENST00000483674.3:n.481T>A
ENST00000601016.6:c.599T>A MANE Select	ENSP00000469981.1:p.Ile200Asn
ENST00000612012.5:c.557T>A	ENSP00000482070.2:p.Ile186Asn
ENST00000612460.5:c.509T>A	ENSP00000481037.1:p.Ile170Asn
ENST00000614595.2:n.1946T>A
ENST00000615658.5:n.1188T>A
ENST00000616020.5:c.611T>A	ENSP00000483636.2:p.Ile204Asn
ENST00000617701.5:c.*612T>A	ENSP00000481645.1:n.*612T>A
ENST00000652354.1:c.281T>A	ENSP00000498734.1:p.Ile94Asn
ENST00000652358.1:c.392T>A	ENSP00000498464.1:p.Ile131Asn
ENST00000652390.1:c.518T>A	ENSP00000498858.1:p.Ile173Asn
ENST00000652476.1:n.1265T>A
ENST00000652644.1:c.212T>A	ENSP00000498496.1:p.Ile71Asn
ENST00000652682.1:c.656T>A	ENSP00000498288.1:p.Ile219Asn
ENST00000652685.1:n.952T>A
ENST00000369776.8:c.392T>A	ENSP00000358791.4:p.Ile131Asn
ENST00000426231.5:c.596T>A
ENST00000439735.2:c.506T>A	ENSP00000398193.1:p.Ile169Asn
ENST00000470127.1:n.178T>A
ENST00000475699.5:c.557T>A	ENSP00000419854.2:p.Ile186Asn
ENST00000494912.5:n.1288T>A
ENST00000498029.1:n.57T>A
ENST00000601016.5:c.599T>A	ENSP00000469981.1:p.Ile200Asn
ENST00000612012.4:c.563T>A	ENSP00000482070.1:p.Ile188Asn
ENST00000612460.4:c.509T>A	ENSP00000481037.1:p.Ile170Asn
ENST00000613002.4:c.467T>A	ENSP00000478154.1:p.Ile156Asn
ENST00000615658.4:n.1288T>A
ENST00000615986.4:c.*327T>A	ENSP00000480133.1:n.*327T>A
ENST00000620808.4:c.*185T>A	ENSP00000479311.1:n.*185T>A
NM_000116.4:c.599T>A	NP_000107.1:p.Ile200Asn
NM_001303465.1:c.611T>A	NP_001290394.1:p.Ile204Asn
NM_181311.3:c.509T>A	NP_851828.1:p.Ile170Asn
NM_181312.3:c.557T>A	NP_851829.1:p.Ile186Asn
NM_181313.3:c.467T>A	NP_851830.1:p.Ile156Asn
NR_024048.2:n.941T>A
XM_006724836.1:c.653T>A	XP_006724899.1:p.Ile218Asn
XM_006724837.1:c.521T>A	XP_006724900.1:p.Ile174Asn
XM_006724839.1:c.521T>A	XP_006724902.1:p.Ile174Asn
XM_006724841.2:c.392T>A	XP_006724904.1:p.Ile131Asn
XM_006724842.2:c.302T>A	XP_006724905.1:p.Ile101Asn
XM_011531189.1:c.440T>A	XP_011529491.1:p.Ile147Asn
XM_011531190.1:c.392T>A	XP_011529492.1:p.Ile131Asn
XM_011531191.1:c.323T>A	XP_011529493.1:p.Ile108Asn
XM_011531192.1:c.320T>A	XP_011529494.1:p.Ile107Asn
XR_938511.1:n.947T>A
XM_006724841.4:c.392T>A	XP_006724904.1:p.Ile131Asn
XM_006724842.4:c.302T>A	XP_006724905.1:p.Ile101Asn
XM_011531191.2:c.323T>A	XP_011529493.1:p.Ile108Asn
XM_017029761.1:c.467T>A	XP_016885250.1:p.Ile156Asn
XM_017029762.1:c.563T>A	XP_016885251.1:p.Ile188Asn
XM_017029763.1:c.386T>A	XP_016885252.1:p.Ile129Asn
XM_017029764.1:c.320T>A	XP_016885253.1:p.Ile107Asn
XM_017029765.2:c.260T>A	XP_016885254.1:p.Ile87Asn
XM_024452431.1:c.440T>A	XP_024308199.1:p.Ile147Asn
NM_000116.5:c.599T>A MANE Select	NP_000107.1:p.Ile200Asn
NM_001303465.2:c.611T>A	NP_001290394.1:p.Ile204Asn
NM_181311.4:c.509T>A	NP_851828.1:p.Ile170Asn
NM_181312.4:c.557T>A	NP_851829.1:p.Ile186Asn
NM_181313.4:c.467T>A	NP_851830.1:p.Ile156Asn
NR_024048.3:n.920T>A