Canonical Allele Identifier: CA1141612

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236331C>T , CM000663.2:g.155236331C>T	GRCh38
NC_000001.10:g.155206122C>T , CM000663.1:g.155206122C>T	GRCh37
NC_000001.9:g.153472746C>T	NCBI36
NG_009783.1:g.13367G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.1138G>A MANE Select	NP_000148.2:p.Ala380Thr
ENST00000368373.8:c.1138G>A MANE Select	ENSP00000357357.3:p.Ala380Thr
NM_000157.3:c.1138G>A	NP_000148.2:p.Ala380Thr
NM_001005741.2:c.1138G>A	NP_001005741.1:p.Ala380Thr
NM_001005741.3:c.1138G>A	NP_001005741.1:p.Ala380Thr
NM_001005742.2:c.1138G>A	NP_001005742.1:p.Ala380Thr
NM_001005742.3:c.1138G>A	NP_001005742.1:p.Ala380Thr
NM_001171811.1:c.877G>A	NP_001165282.1:p.Ala293Thr
NM_001171811.2:c.877G>A	NP_001165282.1:p.Ala293Thr
NM_001171812.1:c.991G>A	NP_001165283.1:p.Ala331Thr
NM_001171812.2:c.991G>A	NP_001165283.1:p.Ala331Thr
ENST00000327247.9:c.1138G>A	ENSP00000314508.5:p.Ala380Thr
ENST00000368373.7:c.1138G>A	ENSP00000357357.3:p.Ala380Thr
ENST00000427500.7:c.991G>A	ENSP00000402577.2:p.Ala331Thr
ENST00000428024.3:c.877G>A	ENSP00000397986.2:p.Ala293Thr
ENST00000478472.1:n.129G>A
ENST00000484489.5:n.340-43G>A
ENST00000491081.5:n.743G>A
XM_006711270.1:c.1138G>A	XP_006711333.1:p.Ala380Thr
XM_011509407.1:c.1138G>A	XP_011507709.1:p.Ala380Thr