Canonical Allele Identifier: CA9562163

Gene: BAX

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48955714G>C , CM000681.2:g.48955714G>C	GRCh38
NC_000019.9:g.49458971G>C , CM000681.1:g.49458971G>C	GRCh37
NC_000019.8:g.54150783G>C	NCBI36
NG_012191.1:g.5855G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138761.4:c.114G>C MANE Select	NP_620116.1:p.Met38Ile
ENST00000345358.12:c.114G>C MANE Select	ENSP00000263262.9:p.Met38Ile
NM_001291428.1:c.114G>C	NP_001278357.1:p.Met38Ile
NM_001291428.2:c.114G>C	NP_001278357.1:p.Met38Ile
NM_001291429.1:c.3G>C	NP_001278358.1:p.Met1Ile
NM_001291429.2:c.3G>C	NP_001278358.1:p.Met1Ile
NM_001291430.1:c.-1-484G>C	NP_001278359.1:n.-1-484G>C
NM_001291430.2:c.-1-484G>C	NP_001278359.1:n.-1-484G>C
NM_001291431.1:c.-1-484G>C	NP_001278360.1:n.-1-484G>C
NM_001291431.2:c.-1-484G>C	NP_001278360.1:n.-1-484G>C
NM_004324.3:c.114G>C	NP_004315.1:p.Met38Ile
NM_004324.4:c.114G>C	NP_004315.1:p.Met38Ile
NM_138761.3:c.114G>C	NP_620116.1:p.Met38Ile
NM_138763.3:c.86+115G>C	NP_620118.1:n.86+115G>C
NM_138763.4:c.86+115G>C	NP_620118.1:n.86+115G>C
NM_138764.4:c.114G>C	NP_620119.2:p.Met38Ile
NM_138764.5:c.114G>C	NP_620119.2:p.Met38Ile
NR_027882.1:n.183G>C
NR_027882.2:n.168G>C
ENST00000293288.12:c.114G>C	ENSP00000293288.8:p.Met38Ile
ENST00000345358.11:c.114G>C	ENSP00000263262.9:p.Met38Ile
ENST00000354470.7:c.86+115G>C	ENSP00000346461.3:n.86+115G>C
ENST00000356483.8:c.114G>C	ENSP00000348871.4:p.Met38Ile
ENST00000391871.4:c.64-1G>C	ENSP00000375744.4:n.64-1G>C
ENST00000415969.6:c.114G>C	ENSP00000389971.2:p.Met38Ile
ENST00000502487.5:n.813G>C
ENST00000503726.2:n.207G>C
ENST00000506183.5:c.35-484G>C
ENST00000513545.5:n.233G>C
ENST00000515540.5:c.62G>C	ENSP00000426328.1:p.Trp21Ser
ENST00000539787.2:c.-1-484G>C	ENSP00000441413.2:n.-1-484G>C
XM_006723314.2:c.3G>C	XP_006723377.1:p.Met1Ile
XM_011527191.1:c.3G>C	XP_011525493.1:p.Met1Ile
XM_017027077.1:c.57G>C	XP_016882566.1:p.Met19Ile