Canonical Allele Identifier: CA415185525

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649069T>G (hg19) ; chrX:g.154420730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420730T>G , CM000685.2:g.154420730T>G	GRCh38
NC_000023.10:g.153649069T>G , CM000685.1:g.153649069T>G	GRCh37
NC_000023.9:g.153302263T>G	NCBI36
NG_009634.1:g.14193T>G
NG_009634.2:g.14196T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1582T>G
ENST00000698317.1:n.2198T>G
ENST00000698318.1:n.1981T>G
ENST00000698319.1:n.1344T>G
ENST00000698320.1:n.1232T>G
ENST00000470127.2:n.1245T>G
ENST00000475699.6:c.736T>G	ENSP00000419854.3:p.Ser246Ala
ENST00000483674.3:n.654T>G
ENST00000601016.6:c.772T>G MANE Select	ENSP00000469981.1:p.Ser258Ala
ENST00000612012.5:c.730T>G	ENSP00000482070.2:p.Ser244Ala
ENST00000612460.5:c.682T>G	ENSP00000481037.1:p.Ser228Ala
ENST00000614595.2:n.2119T>G
ENST00000615658.5:n.1361T>G
ENST00000616020.5:c.784T>G	ENSP00000483636.2:p.Ser262Ala
ENST00000617701.5:c.*785T>G	ENSP00000481645.1:n.*785T>G
ENST00000651139.1:c.-12T>G	ENSP00000498957.1:n.-12T>G
ENST00000652354.1:c.454T>G	ENSP00000498734.1:p.Ser152Ala
ENST00000652358.1:c.565T>G	ENSP00000498464.1:p.Ser189Ala
ENST00000652390.1:c.691T>G	ENSP00000498858.1:p.Ser231Ala
ENST00000652476.1:n.1438T>G
ENST00000652644.1:c.385T>G	ENSP00000498496.1:p.Ser129Ala
ENST00000652682.1:c.829T>G	ENSP00000498288.1:p.Ser277Ala
ENST00000652685.1:n.1125T>G
ENST00000369776.8:c.682T>G	ENSP00000358791.4:p.Ser228Ala
ENST00000426231.5:c.769T>G
ENST00000475699.5:c.730T>G	ENSP00000419854.2:p.Ser244Ala
ENST00000494912.5:n.1461T>G
ENST00000498029.1:n.230T>G
ENST00000601016.5:c.772T>G	ENSP00000469981.1:p.Ser258Ala
ENST00000612460.4:c.682T>G	ENSP00000481037.1:p.Ser228Ala
ENST00000613002.4:c.640T>G	ENSP00000478154.1:p.Ser214Ala
ENST00000615986.4:c.*500T>G	ENSP00000480133.1:n.*500T>G
NM_000116.4:c.772T>G	NP_000107.1:p.Ser258Ala
NM_001303465.1:c.784T>G	NP_001290394.1:p.Ser262Ala
NM_181311.3:c.682T>G	NP_851828.1:p.Ser228Ala
NM_181312.3:c.730T>G	NP_851829.1:p.Ser244Ala
NM_181313.3:c.640T>G	NP_851830.1:p.Ser214Ala
NR_024048.2:n.1114T>G
XM_006724836.1:c.826T>G	XP_006724899.1:p.Ser276Ala
XM_006724837.1:c.811T>G	XP_006724900.1:p.Ser271Ala
XM_006724839.1:c.694T>G	XP_006724902.1:p.Ser232Ala
XM_006724841.2:c.565T>G	XP_006724904.1:p.Ser189Ala
XM_006724842.2:c.475T>G	XP_006724905.1:p.Ser159Ala
XM_011531189.1:c.613T>G	XP_011529491.1:p.Ser205Ala
XM_011531190.1:c.565T>G	XP_011529492.1:p.Ser189Ala
XM_011531191.1:c.496T>G	XP_011529493.1:p.Ser166Ala
XM_011531192.1:c.493T>G	XP_011529494.1:p.Ser165Ala
XR_938511.1:n.1120T>G
XM_006724841.4:c.565T>G	XP_006724904.1:p.Ser189Ala
XM_006724842.4:c.475T>G	XP_006724905.1:p.Ser159Ala
XM_011531191.2:c.496T>G	XP_011529493.1:p.Ser166Ala
XM_017029761.1:c.757T>G	XP_016885250.1:p.Ser253Ala
XM_017029762.1:c.736T>G	XP_016885251.1:p.Ser246Ala
XM_017029763.1:c.559T>G	XP_016885252.1:p.Ser187Ala
XM_017029764.1:c.493T>G	XP_016885253.1:p.Ser165Ala
XM_017029765.2:c.433T>G	XP_016885254.1:p.Ser145Ala
XM_024452431.1:c.730T>G	XP_024308199.1:p.Ser244Ala
NM_000116.5:c.772T>G MANE Select	NP_000107.1:p.Ser258Ala
NM_001303465.2:c.784T>G	NP_001290394.1:p.Ser262Ala
NM_181311.4:c.682T>G	NP_851828.1:p.Ser228Ala
NM_181312.4:c.730T>G	NP_851829.1:p.Ser244Ala
NM_181313.4:c.640T>G	NP_851830.1:p.Ser214Ala
NR_024048.3:n.1093T>G