Canonical Allele Identifier: CA253065
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4298
dbSNP Id: rs74500255

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155237576A>T , CM000663.2:g.155237576A>T GRCh38
NC_000001.10:g.155207367A>T , CM000663.1:g.155207367A>T GRCh37
NC_000001.9:g.153473991A>T NCBI36
NG_009783.1:g.12122T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.764T>A MANE Select ENSP00000357357.3:p.Phe255Tyr
ENST00000327247.9:c.764T>A ENSP00000314508.5:p.Phe255Tyr
ENST00000368373.7:c.764T>A ENSP00000357357.3:p.Phe255Tyr
ENST00000427500.7:c.617T>A ENSP00000402577.2:p.Phe206Tyr
ENST00000428024.3:c.503T>A ENSP00000397986.2:p.Phe168Tyr
ENST00000484489.5:n.340-1288T>A
ENST00000491081.5:n.369T>A
ENST00000497670.5:n.387T>A
NM_000157.3:c.764T>A NP_000148.2:p.Phe255Tyr
NM_001005741.2:c.764T>A NP_001005741.1:p.Phe255Tyr
NM_001005742.2:c.764T>A NP_001005742.1:p.Phe255Tyr
NM_001171811.1:c.503T>A NP_001165282.1:p.Phe168Tyr
NM_001171812.1:c.617T>A NP_001165283.1:p.Phe206Tyr
XM_006711270.1:c.764T>A XP_006711333.1:p.Phe255Tyr
XM_011509407.1:c.764T>A XP_011507709.1:p.Phe255Tyr
NM_000157.4:c.764T>A MANE Select NP_000148.2:p.Phe255Tyr
NM_001005741.3:c.764T>A NP_001005741.1:p.Phe255Tyr
NM_001005742.3:c.764T>A NP_001005742.1:p.Phe255Tyr
NM_001171811.2:c.503T>A NP_001165282.1:p.Phe168Tyr
NM_001171812.2:c.617T>A NP_001165283.1:p.Phe206Tyr