Canonical Allele Identifier: CA275304
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197701
dbSNP Id: rs794727708

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155239639A>C , CM000663.2:g.155239639A>C GRCh38
NC_000001.10:g.155209430A>C , CM000663.1:g.155209430A>C GRCh37
NC_000001.9:g.153476054A>C NCBI36
NG_009783.1:g.10059T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.431T>G MANE Select ENSP00000357357.3:p.Leu144Arg
ENST00000327247.9:c.431T>G ENSP00000314508.5:p.Leu144Arg
ENST00000368373.7:c.431T>G ENSP00000357357.3:p.Leu144Arg
ENST00000427500.7:c.307+247T>G ENSP00000402577.2:n.307+247T>G
ENST00000428024.3:c.170T>G ENSP00000397986.2:p.Leu57Arg
ENST00000467918.5:n.621T>G
ENST00000473570.5:n.752T>G
ENST00000484489.5:n.339+334T>G
ENST00000493842.5:n.769T>G
ENST00000497670.5:n.77+247T>G
NM_000157.3:c.431T>G NP_000148.2:p.Leu144Arg
NM_001005741.2:c.431T>G NP_001005741.1:p.Leu144Arg
NM_001005742.2:c.431T>G NP_001005742.1:p.Leu144Arg
NM_001171811.1:c.170T>G NP_001165282.1:p.Leu57Arg
NM_001171812.1:c.307+247T>G NP_001165283.1:n.307+247T>G
XM_006711270.1:c.431T>G XP_006711333.1:p.Leu144Arg
XM_011509407.1:c.431T>G XP_011507709.1:p.Leu144Arg
NM_000157.4:c.431T>G MANE Select NP_000148.2:p.Leu144Arg
NM_001005741.3:c.431T>G NP_001005741.1:p.Leu144Arg
NM_001005742.3:c.431T>G NP_001005742.1:p.Leu144Arg
NM_001171811.2:c.170T>G NP_001165282.1:p.Leu57Arg
NM_001171812.2:c.307+247T>G NP_001165283.1:n.307+247T>G