Canonical Allele Identifier: CA415185480

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649057G>C (hg19) ; chrX:g.154420718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420718G>C , CM000685.2:g.154420718G>C	GRCh38
NC_000023.10:g.153649057G>C , CM000685.1:g.153649057G>C	GRCh37
NC_000023.9:g.153302251G>C	NCBI36
NG_009634.1:g.14181G>C
NG_009634.2:g.14184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1570G>C
ENST00000698317.1:n.2186G>C
ENST00000698318.1:n.1969G>C
ENST00000698319.1:n.1332G>C
ENST00000698320.1:n.1220G>C
ENST00000470127.2:n.1233G>C
ENST00000475699.6:c.724G>C	ENSP00000419854.3:p.Ala242Pro
ENST00000483674.3:n.642G>C
ENST00000601016.6:c.760G>C MANE Select	ENSP00000469981.1:p.Ala254Pro
ENST00000612012.5:c.718G>C	ENSP00000482070.2:p.Ala240Pro
ENST00000612460.5:c.670G>C	ENSP00000481037.1:p.Ala224Pro
ENST00000614595.2:n.2107G>C
ENST00000615658.5:n.1349G>C
ENST00000616020.5:c.772G>C	ENSP00000483636.2:p.Ala258Pro
ENST00000617701.5:c.*773G>C	ENSP00000481645.1:n.*773G>C
ENST00000651139.1:c.-24G>C	ENSP00000498957.1:n.-24G>C
ENST00000652354.1:c.442G>C	ENSP00000498734.1:p.Ala148Pro
ENST00000652358.1:c.553G>C	ENSP00000498464.1:p.Ala185Pro
ENST00000652390.1:c.679G>C	ENSP00000498858.1:p.Ala227Pro
ENST00000652476.1:n.1426G>C
ENST00000652644.1:c.373G>C	ENSP00000498496.1:p.Ala125Pro
ENST00000652682.1:c.817G>C	ENSP00000498288.1:p.Ala273Pro
ENST00000652685.1:n.1113G>C
ENST00000369776.8:c.670G>C	ENSP00000358791.4:p.Ala224Pro
ENST00000426231.5:c.757G>C
ENST00000475699.5:c.718G>C	ENSP00000419854.2:p.Ala240Pro
ENST00000494912.5:n.1449G>C
ENST00000498029.1:n.218G>C
ENST00000601016.5:c.760G>C	ENSP00000469981.1:p.Ala254Pro
ENST00000612460.4:c.670G>C	ENSP00000481037.1:p.Ala224Pro
ENST00000613002.4:c.628G>C	ENSP00000478154.1:p.Ala210Pro
ENST00000615986.4:c.*488G>C	ENSP00000480133.1:n.*488G>C
NM_000116.4:c.760G>C	NP_000107.1:p.Ala254Pro
NM_001303465.1:c.772G>C	NP_001290394.1:p.Ala258Pro
NM_181311.3:c.670G>C	NP_851828.1:p.Ala224Pro
NM_181312.3:c.718G>C	NP_851829.1:p.Ala240Pro
NM_181313.3:c.628G>C	NP_851830.1:p.Ala210Pro
NR_024048.2:n.1102G>C
XM_006724836.1:c.814G>C	XP_006724899.1:p.Ala272Pro
XM_006724837.1:c.799G>C	XP_006724900.1:p.Ala267Pro
XM_006724839.1:c.682G>C	XP_006724902.1:p.Ala228Pro
XM_006724841.2:c.553G>C	XP_006724904.1:p.Ala185Pro
XM_006724842.2:c.463G>C	XP_006724905.1:p.Ala155Pro
XM_011531189.1:c.601G>C	XP_011529491.1:p.Ala201Pro
XM_011531190.1:c.553G>C	XP_011529492.1:p.Ala185Pro
XM_011531191.1:c.484G>C	XP_011529493.1:p.Ala162Pro
XM_011531192.1:c.481G>C	XP_011529494.1:p.Ala161Pro
XR_938511.1:n.1108G>C
XM_006724841.4:c.553G>C	XP_006724904.1:p.Ala185Pro
XM_006724842.4:c.463G>C	XP_006724905.1:p.Ala155Pro
XM_011531191.2:c.484G>C	XP_011529493.1:p.Ala162Pro
XM_017029761.1:c.745G>C	XP_016885250.1:p.Ala249Pro
XM_017029762.1:c.724G>C	XP_016885251.1:p.Ala242Pro
XM_017029763.1:c.547G>C	XP_016885252.1:p.Ala183Pro
XM_017029764.1:c.481G>C	XP_016885253.1:p.Ala161Pro
XM_017029765.2:c.421G>C	XP_016885254.1:p.Ala141Pro
XM_024452431.1:c.718G>C	XP_024308199.1:p.Ala240Pro
NM_000116.5:c.760G>C MANE Select	NP_000107.1:p.Ala254Pro
NM_001303465.2:c.772G>C	NP_001290394.1:p.Ala258Pro
NM_181311.4:c.670G>C	NP_851828.1:p.Ala224Pro
NM_181312.4:c.718G>C	NP_851829.1:p.Ala240Pro
NM_181313.4:c.628G>C	NP_851830.1:p.Ala210Pro
NR_024048.3:n.1081G>C