Canonical Allele Identifier: CA3080808084

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235130G= , CM000663.2:g.155235130G=	GRCh38
NC_000001.10:g.155204921G= , CM000663.1:g.155204921G=	GRCh37
NC_000001.9:g.153471545G=	NCBI36
NG_009783.1:g.14568C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.1506-30C= MANE Select	NP_000148.2:n.1506-30C=
ENST00000368373.8:c.1506-30C= MANE Select	ENSP00000357357.3:n.1506-30C=
NM_000157.3:c.1506-30C=	NP_000148.2:n.1506-30C=
NM_001005741.2:c.1506-30C=	NP_001005741.1:n.1506-30C=
NM_001005741.3:c.1506-30C=	NP_001005741.1:n.1506-30C=
NM_001005742.2:c.1506-30C=	NP_001005742.1:n.1506-30C=
NM_001005742.3:c.1506-30C=	NP_001005742.1:n.1506-30C=
NM_001171811.1:c.1245-30C=	NP_001165282.1:n.1245-30C=
NM_001171811.2:c.1245-30C=	NP_001165282.1:n.1245-30C=
NM_001171812.1:c.1359-30C=	NP_001165283.1:n.1359-30C=
NM_001171812.2:c.1359-30C=	NP_001165283.1:n.1359-30C=
ENST00000327247.9:c.1506-30C=	ENSP00000314508.5:n.1506-30C=
ENST00000368373.7:c.1506-30C=	ENSP00000357357.3:n.1506-30C=
ENST00000427500.7:c.1359-30C=	ENSP00000402577.2:n.1359-30C=
ENST00000428024.3:c.1245-30C=	ENSP00000397986.2:n.1245-30C=
ENST00000464536.1:n.191-309C=
ENST00000478472.1:n.866-30C=
ENST00000484489.5:n.665-30C=
XM_006711270.1:c.1506-30C=	XP_006711333.1:n.1506-30C=
XM_011509407.1:c.1506-30C=	XP_011507709.1:n.1506-30C=