Canonical Allele Identifier: CA30896518

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239933C>T , CM000663.2:g.155239933C>T	GRCh38
NC_000001.10:g.155209724C>T , CM000663.1:g.155209724C>T	GRCh37
NC_000001.9:g.153476348C>T	NCBI36
NG_009783.1:g.9765G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.260G>A MANE Select	NP_000148.2:p.Arg87Gln
ENST00000368373.8:c.260G>A MANE Select	ENSP00000357357.3:p.Arg87Gln
NM_000157.3:c.260G>A	NP_000148.2:p.Arg87Gln
NM_001005741.2:c.260G>A	NP_001005741.1:p.Arg87Gln
NM_001005741.3:c.260G>A	NP_001005741.1:p.Arg87Gln
NM_001005742.2:c.260G>A	NP_001005742.1:p.Arg87Gln
NM_001005742.3:c.260G>A	NP_001005742.1:p.Arg87Gln
NM_001171811.1:c.-2G>A	NP_001165282.1:n.-2G>A
NM_001171811.2:c.-2G>A	NP_001165282.1:n.-2G>A
NM_001171812.1:c.260G>A	NP_001165283.1:p.Arg87Gln
NM_001171812.2:c.260G>A	NP_001165283.1:p.Arg87Gln
ENST00000327247.9:c.260G>A	ENSP00000314508.5:p.Arg87Gln
ENST00000368373.7:c.260G>A	ENSP00000357357.3:p.Arg87Gln
ENST00000427500.7:c.260G>A	ENSP00000402577.2:p.Arg87Gln
ENST00000428024.3:c.-2G>A	ENSP00000397986.2:n.-2G>A
ENST00000467918.5:n.450G>A
ENST00000473570.5:n.581G>A
ENST00000484489.5:n.339+40G>A
ENST00000493842.5:n.598G>A
ENST00000497670.5:n.30G>A
XM_006711270.1:c.260G>A	XP_006711333.1:p.Arg87Gln
XM_011509407.1:c.260G>A	XP_011507709.1:p.Arg87Gln