Canonical Allele Identifier: CA342724120

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238567C>T , CM000663.2:g.155238567C>T	GRCh38
NC_000001.10:g.155208358C>T , CM000663.1:g.155208358C>T	GRCh37
NC_000001.9:g.153474982C>T	NCBI36
NG_009783.1:g.11131G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.538G>A MANE Select	NP_000148.2:p.Asp180Asn
ENST00000368373.8:c.538G>A MANE Select	ENSP00000357357.3:p.Asp180Asn
NM_000157.3:c.538G>A	NP_000148.2:p.Asp180Asn
NM_001005741.2:c.538G>A	NP_001005741.1:p.Asp180Asn
NM_001005741.3:c.538G>A	NP_001005741.1:p.Asp180Asn
NM_001005742.2:c.538G>A	NP_001005742.1:p.Asp180Asn
NM_001005742.3:c.538G>A	NP_001005742.1:p.Asp180Asn
NM_001171811.1:c.277G>A	NP_001165282.1:p.Asp93Asn
NM_001171811.2:c.277G>A	NP_001165282.1:p.Asp93Asn
NM_001171812.1:c.391G>A	NP_001165283.1:p.Asp131Asn
NM_001171812.2:c.391G>A	NP_001165283.1:p.Asp131Asn
ENST00000327247.9:c.538G>A	ENSP00000314508.5:p.Asp180Asn
ENST00000368373.7:c.538G>A	ENSP00000357357.3:p.Asp180Asn
ENST00000427500.7:c.391G>A	ENSP00000402577.2:p.Asp131Asn
ENST00000428024.3:c.277G>A	ENSP00000397986.2:p.Asp93Asn
ENST00000460156.1:n.325G>A
ENST00000473570.5:n.859G>A
ENST00000484489.5:n.339+1406G>A
ENST00000491081.5:n.143G>A
ENST00000493842.5:n.876G>A
ENST00000497670.5:n.161G>A
XM_006711270.1:c.538G>A	XP_006711333.1:p.Asp180Asn
XM_011509407.1:c.538G>A	XP_011507709.1:p.Asp180Asn