Canonical Allele Identifier: CA221396
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4330
dbSNP Id: rs121908312

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155239716C>G , CM000663.2:g.155239716C>G GRCh38
NC_000001.10:g.155209507C>G , CM000663.1:g.155209507C>G GRCh37
NC_000001.9:g.153476131C>G NCBI36
NG_009783.1:g.9982G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.354G>C MANE Select ENSP00000357357.3:p.Lys118Asn
ENST00000327247.9:c.354G>C ENSP00000314508.5:p.Lys118Asn
ENST00000368373.7:c.354G>C ENSP00000357357.3:p.Lys118Asn
ENST00000427500.7:c.307+170G>C ENSP00000402577.2:n.307+170G>C
ENST00000428024.3:c.93G>C ENSP00000397986.2:p.Lys31Asn
ENST00000467918.5:n.544G>C
ENST00000473570.5:n.675G>C
ENST00000484489.5:n.339+257G>C
ENST00000493842.5:n.692G>C
ENST00000497670.5:n.77+170G>C
NM_000157.3:c.354G>C NP_000148.2:p.Lys118Asn
NM_001005741.2:c.354G>C NP_001005741.1:p.Lys118Asn
NM_001005742.2:c.354G>C NP_001005742.1:p.Lys118Asn
NM_001171811.1:c.93G>C NP_001165282.1:p.Lys31Asn
NM_001171812.1:c.307+170G>C NP_001165283.1:n.307+170G>C
XM_006711270.1:c.354G>C XP_006711333.1:p.Lys118Asn
XM_011509407.1:c.354G>C XP_011507709.1:p.Lys118Asn
NM_000157.4:c.354G>C MANE Select NP_000148.2:p.Lys118Asn
NM_001005741.3:c.354G>C NP_001005741.1:p.Lys118Asn
NM_001005742.3:c.354G>C NP_001005742.1:p.Lys118Asn
NM_001171811.2:c.93G>C NP_001165282.1:p.Lys31Asn
NM_001171812.2:c.307+170G>C NP_001165283.1:n.307+170G>C