Canonical Allele Identifier: CA2481203617

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239782A= , CM000663.2:g.155239782A=	GRCh38
NC_000001.10:g.155209573A= , CM000663.1:g.155209573A=	GRCh37
NC_000001.9:g.153476197A=	NCBI36
NG_009783.1:g.9916T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.308-20T= MANE Select	ENSP00000357357.3:n.308-20T=
ENST00000327247.9:c.308-20T=	ENSP00000314508.5:n.308-20T=
ENST00000368373.7:c.308-20T=	ENSP00000357357.3:n.308-20T=
ENST00000427500.7:c.307+104T=	ENSP00000402577.2:n.307+104T=
ENST00000428024.3:c.47-20T=	ENSP00000397986.2:n.47-20T=
ENST00000467918.5:n.498-20T=
ENST00000473570.5:n.629-20T=
ENST00000484489.5:n.339+191T=
ENST00000493842.5:n.646-20T=
ENST00000497670.5:n.77+104T=
NM_000157.3:c.308-20T=	NP_000148.2:n.308-20T=
NM_001005741.2:c.308-20T=	NP_001005741.1:n.308-20T=
NM_001005742.2:c.308-20T=	NP_001005742.1:n.308-20T=
NM_001171811.1:c.47-20T=	NP_001165282.1:n.47-20T=
NM_001171812.1:c.307+104T=	NP_001165283.1:n.307+104T=
XM_006711270.1:c.308-20T=	XP_006711333.1:n.308-20T=
XM_011509407.1:c.308-20T=	XP_011507709.1:n.308-20T=
NM_000157.4:c.308-20T= MANE Select	NP_000148.2:n.308-20T=
NM_001005741.3:c.308-20T=	NP_001005741.1:n.308-20T=
NM_001005742.3:c.308-20T=	NP_001005742.1:n.308-20T=
NM_001171811.2:c.47-20T=	NP_001165282.1:n.47-20T=
NM_001171812.2:c.307+104T=	NP_001165283.1:n.307+104T=