Canonical Allele Identifier: CA415185337

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649003A>C (hg19) ; chrX:g.154420664A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420664A>C , CM000685.2:g.154420664A>C	GRCh38
NC_000023.10:g.153649003A>C , CM000685.1:g.153649003A>C	GRCh37
NC_000023.9:g.153302197A>C	NCBI36
NG_009634.1:g.14127A>C
NG_009634.2:g.14130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1516A>C
ENST00000698317.1:n.2132A>C
ENST00000698318.1:n.1915A>C
ENST00000698319.1:n.1278A>C
ENST00000698320.1:n.1166A>C
ENST00000470127.2:n.1179A>C
ENST00000475699.6:c.670A>C	ENSP00000419854.3:p.Thr224Pro
ENST00000483674.3:n.588A>C
ENST00000601016.6:c.706A>C MANE Select	ENSP00000469981.1:p.Thr236Pro
ENST00000612012.5:c.664A>C	ENSP00000482070.2:p.Thr222Pro
ENST00000612460.5:c.616A>C	ENSP00000481037.1:p.Thr206Pro
ENST00000614595.2:n.2053A>C
ENST00000615658.5:n.1295A>C
ENST00000616020.5:c.718A>C	ENSP00000483636.2:p.Thr240Pro
ENST00000617701.5:c.*719A>C	ENSP00000481645.1:n.*719A>C
ENST00000651139.1:c.-78A>C	ENSP00000498957.1:n.-78A>C
ENST00000652354.1:c.388A>C	ENSP00000498734.1:p.Thr130Pro
ENST00000652358.1:c.499A>C	ENSP00000498464.1:p.Thr167Pro
ENST00000652390.1:c.625A>C	ENSP00000498858.1:p.Thr209Pro
ENST00000652476.1:n.1372A>C
ENST00000652644.1:c.319A>C	ENSP00000498496.1:p.Thr107Pro
ENST00000652682.1:c.763A>C	ENSP00000498288.1:p.Thr255Pro
ENST00000652685.1:n.1059A>C
ENST00000369776.8:c.616A>C	ENSP00000358791.4:p.Thr206Pro
ENST00000426231.5:c.703A>C
ENST00000475699.5:c.664A>C	ENSP00000419854.2:p.Thr222Pro
ENST00000494912.5:n.1395A>C
ENST00000498029.1:n.164A>C
ENST00000601016.5:c.706A>C	ENSP00000469981.1:p.Thr236Pro
ENST00000612460.4:c.616A>C	ENSP00000481037.1:p.Thr206Pro
ENST00000613002.4:c.574A>C	ENSP00000478154.1:p.Thr192Pro
ENST00000615986.4:c.*434A>C	ENSP00000480133.1:n.*434A>C
NM_000116.4:c.706A>C	NP_000107.1:p.Thr236Pro
NM_001303465.1:c.718A>C	NP_001290394.1:p.Thr240Pro
NM_181311.3:c.616A>C	NP_851828.1:p.Thr206Pro
NM_181312.3:c.664A>C	NP_851829.1:p.Thr222Pro
NM_181313.3:c.574A>C	NP_851830.1:p.Thr192Pro
NR_024048.2:n.1048A>C
XM_006724836.1:c.760A>C	XP_006724899.1:p.Thr254Pro
XM_006724837.1:c.745A>C	XP_006724900.1:p.Thr249Pro
XM_006724839.1:c.628A>C	XP_006724902.1:p.Thr210Pro
XM_006724841.2:c.499A>C	XP_006724904.1:p.Thr167Pro
XM_006724842.2:c.409A>C	XP_006724905.1:p.Thr137Pro
XM_011531189.1:c.547A>C	XP_011529491.1:p.Thr183Pro
XM_011531190.1:c.499A>C	XP_011529492.1:p.Thr167Pro
XM_011531191.1:c.430A>C	XP_011529493.1:p.Thr144Pro
XM_011531192.1:c.427A>C	XP_011529494.1:p.Thr143Pro
XR_938511.1:n.1054A>C
XM_006724841.4:c.499A>C	XP_006724904.1:p.Thr167Pro
XM_006724842.4:c.409A>C	XP_006724905.1:p.Thr137Pro
XM_011531191.2:c.430A>C	XP_011529493.1:p.Thr144Pro
XM_017029761.1:c.691A>C	XP_016885250.1:p.Thr231Pro
XM_017029762.1:c.670A>C	XP_016885251.1:p.Thr224Pro
XM_017029763.1:c.493A>C	XP_016885252.1:p.Thr165Pro
XM_017029764.1:c.427A>C	XP_016885253.1:p.Thr143Pro
XM_017029765.2:c.367A>C	XP_016885254.1:p.Thr123Pro
XM_024452431.1:c.664A>C	XP_024308199.1:p.Thr222Pro
NM_000116.5:c.706A>C MANE Select	NP_000107.1:p.Thr236Pro
NM_001303465.2:c.718A>C	NP_001290394.1:p.Thr240Pro
NM_181311.4:c.616A>C	NP_851828.1:p.Thr206Pro
NM_181312.4:c.664A>C	NP_851829.1:p.Thr222Pro
NM_181313.4:c.574A>C	NP_851830.1:p.Thr192Pro
NR_024048.3:n.1027A>C