Canonical Allele Identifier: CA5050725

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35744614C>T , CM000671.2:g.35744614C>T	GRCh38
NC_000009.11:g.35744611C>T , CM000671.1:g.35744611C>T	GRCh37
NC_000009.10:g.35734611C>T	NCBI36
NG_033899.1:g.9615G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.451+1G>A MANE Select	NP_065995.1:n.451+1G>A
ENST00000378103.7:c.451+1G>A MANE Select	ENSP00000367343.3:n.451+1G>A
NM_001330660.1:c.451+1G>A	NP_001317589.1:n.451+1G>A
NM_001330660.2:c.451+1G>A	NP_001317589.1:n.451+1G>A
NM_020944.2:c.451+1G>A	NP_065995.1:n.451+1G>A
ENST00000378094.4:c.451+1G>A	ENSP00000367334.4:n.451+1G>A
ENST00000489025.1:n.720+1G>A
XM_005251526.3:c.451+1G>A	XP_005251583.1:n.451+1G>A
XM_005251526.5:c.451+1G>A	XP_005251583.1:n.451+1G>A
XM_006716809.2:c.451+1G>A	XP_006716872.1:n.451+1G>A
XM_006716809.4:c.451+1G>A	XP_006716872.1:n.451+1G>A
XM_011517969.1:c.451+1G>A	XP_011516271.1:n.451+1G>A
XM_011517970.1:c.451+1G>A	XP_011516272.1:n.451+1G>A
XM_011517971.1:c.451+1G>A	XP_011516273.1:n.451+1G>A
XM_011517972.1:c.451+1G>A	XP_011516274.1:n.451+1G>A
XM_011517973.1:c.451+1G>A	XP_011516275.1:n.451+1G>A
XM_011517974.1:c.451+1G>A	XP_011516276.1:n.451+1G>A
XM_011517975.1:c.3+1G>A	XP_011516277.1:n.3+1G>A
XM_011517976.1:c.3+1G>A	XP_011516278.1:n.3+1G>A
XM_017014937.2:c.451+1G>A	XP_016870426.1:n.451+1G>A
XM_017014938.2:c.451+1G>A	XP_016870427.1:n.451+1G>A
XM_017014939.2:c.451+1G>A	XP_016870428.1:n.451+1G>A
XM_017014940.2:c.451+1G>A	XP_016870429.1:n.451+1G>A
XM_017014941.2:c.451+1G>A	XP_016870430.1:n.451+1G>A
XM_017014942.2:c.3+1G>A	XP_016870431.1:n.3+1G>A
XM_017014943.2:c.3+1G>A	XP_016870432.1:n.3+1G>A
XM_017014946.2:c.-462+1G>A	XP_016870435.1:n.-462+1G>A