Canonical Allele Identifier: CA415179524

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153640453G>C (hg19) ; chrX:g.154412116G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412116G>C , CM000685.2:g.154412116G>C	GRCh38
NC_000023.10:g.153640453G>C , CM000685.1:g.153640453G>C	GRCh37
NC_000023.9:g.153293647G>C	NCBI36
NG_009634.1:g.5577G>C
NG_012884.2:g.4973C>G
NG_009634.2:g.5582G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.568G>C
ENST00000698235.1:n.127G>C
ENST00000698317.1:n.102G>C
ENST00000475699.6:c.194G>C	ENSP00000419854.3:p.Arg65Thr
ENST00000476800.2:n.105G>C
ENST00000483674.3:n.31G>C
ENST00000601016.6:c.140G>C MANE Select	ENSP00000469981.1:p.Arg47Thr
ENST00000612012.5:c.140G>C	ENSP00000482070.2:p.Arg47Thr
ENST00000612460.5:c.140G>C	ENSP00000481037.1:p.Arg47Thr
ENST00000614595.2:n.498G>C
ENST00000615658.5:n.453G>C
ENST00000616020.5:c.194G>C	ENSP00000483636.2:p.Arg65Thr
ENST00000617701.5:c.140G>C	ENSP00000481645.1:p.Arg47Thr
ENST00000621647.2:n.193G>C
ENST00000652358.1:c.-57+164G>C	ENSP00000498464.1:n.-57+164G>C
ENST00000652390.1:c.59G>C	ENSP00000498858.1:p.Arg20Thr
ENST00000652476.1:n.301G>C
ENST00000652682.1:c.140G>C	ENSP00000498288.1:p.Arg47Thr
ENST00000652685.1:n.192G>C
ENST00000369776.8:c.163+110G>C	ENSP00000358791.4:n.163+110G>C
ENST00000439735.2:c.140G>C	ENSP00000398193.1:p.Arg47Thr
ENST00000475699.5:c.140G>C	ENSP00000419854.2:p.Arg47Thr
ENST00000601016.5:c.140G>C	ENSP00000469981.1:p.Arg47Thr
ENST00000612012.4:c.194G>C	ENSP00000482070.1:p.Arg65Thr
ENST00000612460.4:c.140G>C	ENSP00000481037.1:p.Arg47Thr
ENST00000613002.4:c.140G>C	ENSP00000478154.1:p.Arg47Thr
ENST00000613634.4:n.460G>C
ENST00000614595.1:n.359G>C
ENST00000615658.4:n.466G>C
ENST00000615986.4:c.140G>C	ENSP00000480133.1:p.Arg47Thr
ENST00000616020.4:c.194G>C	ENSP00000483636.1:p.Arg65Thr
ENST00000617701.4:c.140G>C	ENSP00000481645.1:p.Arg47Thr
ENST00000620808.4:c.140G>C	ENSP00000479311.1:p.Arg47Thr
ENST00000621647.1:n.425G>C
NM_000116.4:c.140G>C	NP_000107.1:p.Arg47Thr
NM_001303465.1:c.194G>C	NP_001290394.1:p.Arg65Thr
NM_181311.3:c.140G>C	NP_851828.1:p.Arg47Thr
NM_181312.3:c.140G>C	NP_851829.1:p.Arg47Thr
NM_181313.3:c.140G>C	NP_851830.1:p.Arg47Thr
NR_024048.2:n.466G>C
XM_006724836.1:c.194G>C	XP_006724899.1:p.Arg65Thr
XM_006724837.1:c.194G>C	XP_006724900.1:p.Arg65Thr
XM_006724839.1:c.194G>C	XP_006724902.1:p.Arg65Thr
XM_006724841.2:c.-155G>C	XP_006724904.1:n.-155G>C
XM_006724842.2:c.-155G>C	XP_006724905.1:n.-155G>C
XM_011531189.1:c.194G>C	XP_011529491.1:p.Arg65Thr
XR_938511.1:n.497G>C
XM_006724841.4:c.-155G>C	XP_006724904.1:n.-155G>C
XM_006724842.4:c.-155G>C	XP_006724905.1:n.-155G>C
XM_017029761.1:c.140G>C	XP_016885250.1:p.Arg47Thr
XM_017029762.1:c.194G>C	XP_016885251.1:p.Arg65Thr
XM_017029763.1:c.140G>C	XP_016885252.1:p.Arg47Thr
XM_017029765.2:c.-155G>C	XP_016885254.1:n.-155G>C
XM_024452431.1:c.194G>C	XP_024308199.1:p.Arg65Thr
NM_000116.5:c.140G>C MANE Select	NP_000107.1:p.Arg47Thr
NM_001303465.2:c.194G>C	NP_001290394.1:p.Arg65Thr
NM_181311.4:c.140G>C	NP_851828.1:p.Arg47Thr
NM_181312.4:c.140G>C	NP_851829.1:p.Arg47Thr
NM_181313.4:c.140G>C	NP_851830.1:p.Arg47Thr
NR_024048.3:n.445G>C