Canonical Allele Identifier: CA221403
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93455
dbSNP Id: rs398123532

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155238270G>A , CM000663.2:g.155238270G>A GRCh38
NC_000001.10:g.155208061G>A , CM000663.1:g.155208061G>A GRCh37
NC_000001.9:g.153474685G>A NCBI36
NG_009783.1:g.11428C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.625C>T MANE Select ENSP00000357357.3:p.Arg209Cys
ENST00000327247.9:c.625C>T ENSP00000314508.5:p.Arg209Cys
ENST00000368373.7:c.625C>T ENSP00000357357.3:p.Arg209Cys
ENST00000427500.7:c.478C>T ENSP00000402577.2:p.Arg160Cys
ENST00000428024.3:c.364C>T ENSP00000397986.2:p.Arg122Cys
ENST00000460156.1:n.412C>T
ENST00000484489.5:n.339+1703C>T
ENST00000491081.5:n.230C>T
ENST00000493842.5:n.963C>T
ENST00000497670.5:n.248C>T
NM_000157.3:c.625C>T NP_000148.2:p.Arg209Cys
NM_001005741.2:c.625C>T NP_001005741.1:p.Arg209Cys
NM_001005742.2:c.625C>T NP_001005742.1:p.Arg209Cys
NM_001171811.1:c.364C>T NP_001165282.1:p.Arg122Cys
NM_001171812.1:c.478C>T NP_001165283.1:p.Arg160Cys
XM_006711270.1:c.625C>T XP_006711333.1:p.Arg209Cys
XM_011509407.1:c.625C>T XP_011507709.1:p.Arg209Cys
NM_000157.4:c.625C>T MANE Select NP_000148.2:p.Arg209Cys
NM_001005741.3:c.625C>T NP_001005741.1:p.Arg209Cys
NM_001005742.3:c.625C>T NP_001005742.1:p.Arg209Cys
NM_001171811.2:c.364C>T NP_001165282.1:p.Arg122Cys
NM_001171812.2:c.478C>T NP_001165283.1:p.Arg160Cys