Canonical Allele Identifier: CA9562371

Gene: BAX

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48961558G>A , CM000681.2:g.48961558G>A	GRCh38
NC_000019.9:g.49464815G>A , CM000681.1:g.49464815G>A	GRCh37
NC_000019.8:g.54156627G>A	NCBI36
NG_008152.1:g.1250G>A
NG_012191.1:g.11699G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138761.4:c.501G>A MANE Select	NP_620116.1:p.Thr167=
ENST00000345358.12:c.501G>A MANE Select	ENSP00000263262.9:p.Thr167=
NM_001291428.1:c.550G>A	NP_001278357.1:p.Ala184Thr
NM_001291428.2:c.550G>A	NP_001278357.1:p.Ala184Thr
NM_001291429.2:c.*461G>A	NP_001278358.1:n.*461G>A
NM_001291430.2:c.*461G>A	NP_001278359.1:n.*461G>A
NM_001291431.1:c.267G>A	NP_001278360.1:p.Thr89=
NM_001291431.2:c.267G>A	NP_001278360.1:p.Thr89=
NM_004324.4:c.*461G>A	NP_004315.1:n.*461G>A
NM_138761.3:c.501G>A	NP_620116.1:p.Thr167=
NM_138763.3:c.354G>A	NP_620118.1:p.Thr118=
NM_138763.4:c.354G>A	NP_620118.1:p.Thr118=
NM_138764.4:c.475-13G>A	NP_620119.2:n.475-13G>A
NM_138764.5:c.475-13G>A	NP_620119.2:n.475-13G>A
NR_027882.1:n.668G>A
NR_027882.2:n.653G>A
ENST00000293288.12:c.1118G>A	ENSP00000293288.8:n.1118G>A
ENST00000345358.11:c.501G>A	ENSP00000263262.9:p.Thr167=
ENST00000354470.7:c.354G>A	ENSP00000346461.3:p.Thr118=
ENST00000356483.8:c.599G>A	ENSP00000348871.4:n.599G>A
ENST00000391871.4:c.450G>A	ENSP00000375744.4:p.Thr150=
ENST00000415969.6:c.475-13G>A	ENSP00000389971.2:n.475-13G>A
ENST00000502487.5:n.1200G>A
ENST00000506183.5:c.302G>A
ENST00000513545.5:n.620G>A
XM_006723314.2:c.439G>A	XP_006723377.1:p.Ala147Thr
XM_011527191.1:c.390G>A	XP_011525493.1:p.Thr130=
XM_017027077.1:c.444G>A	XP_016882566.1:p.Thr148=