Canonical Allele Identifier: CA116767
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4290
dbSNP Id: rs76763715

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235843T>C , CM000663.2:g.155235843T>C GRCh38
NC_000001.10:g.155205634T>C , CM000663.1:g.155205634T>C GRCh37
NC_000001.9:g.153472258T>C NCBI36
NG_009783.1:g.13855A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.1226A>G MANE Select ENSP00000357357.3:p.Asn409Ser
ENST00000327247.9:c.1226A>G ENSP00000314508.5:p.Asn409Ser
ENST00000368373.7:c.1226A>G ENSP00000357357.3:p.Asn409Ser
ENST00000427500.7:c.1079A>G ENSP00000402577.2:p.Asn360Ser
ENST00000428024.3:c.965A>G ENSP00000397986.2:p.Asn322Ser
ENST00000478472.1:n.217A>G
ENST00000484489.5:n.385A>G
NM_000157.3:c.1226A>G NP_000148.2:p.Asn409Ser
NM_001005741.2:c.1226A>G NP_001005741.1:p.Asn409Ser
NM_001005742.2:c.1226A>G NP_001005742.1:p.Asn409Ser
NM_001171811.1:c.965A>G NP_001165282.1:p.Asn322Ser
NM_001171812.1:c.1079A>G NP_001165283.1:p.Asn360Ser
XM_006711270.1:c.1226A>G XP_006711333.1:p.Asn409Ser
XM_011509407.1:c.1226A>G XP_011507709.1:p.Asn409Ser
NM_000157.4:c.1226A>G MANE Select NP_000148.2:p.Asn409Ser
NM_001005741.3:c.1226A>G NP_001005741.1:p.Asn409Ser
NM_001005742.3:c.1226A>G NP_001005742.1:p.Asn409Ser
NM_001171811.2:c.965A>G NP_001165282.1:p.Asn322Ser
NM_001171812.2:c.1079A>G NP_001165283.1:p.Asn360Ser