Canonical Allele Identifier: CA253118
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4335
dbSNP Id: rs75671029

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235256C>T , CM000663.2:g.155235256C>T GRCh38
NC_000001.10:g.155205047C>T , CM000663.1:g.155205047C>T GRCh37
NC_000001.9:g.153471671C>T NCBI36
NG_009783.1:g.14442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.1444G>A MANE Select ENSP00000357357.3:p.Asp482Asn
ENST00000327247.9:c.1444G>A ENSP00000314508.5:p.Asp482Asn
ENST00000368373.7:c.1444G>A ENSP00000357357.3:p.Asp482Asn
ENST00000427500.7:c.1297G>A ENSP00000402577.2:p.Asp433Asn
ENST00000428024.3:c.1183G>A ENSP00000397986.2:p.Asp395Asn
ENST00000464536.1:n.190+390G>A
ENST00000478472.1:n.804G>A
ENST00000484489.5:n.603G>A
NM_000157.3:c.1444G>A NP_000148.2:p.Asp482Asn
NM_001005741.2:c.1444G>A NP_001005741.1:p.Asp482Asn
NM_001005742.2:c.1444G>A NP_001005742.1:p.Asp482Asn
NM_001171811.1:c.1183G>A NP_001165282.1:p.Asp395Asn
NM_001171812.1:c.1297G>A NP_001165283.1:p.Asp433Asn
XM_006711270.1:c.1444G>A XP_006711333.1:p.Asp482Asn
XM_011509407.1:c.1444G>A XP_011507709.1:p.Asp482Asn
NM_000157.4:c.1444G>A MANE Select NP_000148.2:p.Asp482Asn
NM_001005741.3:c.1444G>A NP_001005741.1:p.Asp482Asn
NM_001005742.3:c.1444G>A NP_001005742.1:p.Asp482Asn
NM_001171811.2:c.1183G>A NP_001165282.1:p.Asp395Asn
NM_001171812.2:c.1297G>A NP_001165283.1:p.Asp433Asn