Canonical Allele Identifier: CA253116
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4332
ClinVar RCV Id: RCV000004578
dbSNP Id: rs121908314

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235841G>C , CM000663.2:g.155235841G>C GRCh38
NC_000001.10:g.155205632G>C , CM000663.1:g.155205632G>C GRCh37
NC_000001.9:g.153472256G>C NCBI36
NG_009783.1:g.13857C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.1228C>G MANE Select ENSP00000357357.3:p.Leu410Val
ENST00000327247.9:c.1228C>G ENSP00000314508.5:p.Leu410Val
ENST00000368373.7:c.1228C>G ENSP00000357357.3:p.Leu410Val
ENST00000427500.7:c.1081C>G ENSP00000402577.2:p.Leu361Val
ENST00000428024.3:c.967C>G ENSP00000397986.2:p.Leu323Val
ENST00000478472.1:n.219C>G
ENST00000484489.5:n.387C>G
NM_000157.3:c.1228C>G NP_000148.2:p.Leu410Val
NM_001005741.2:c.1228C>G NP_001005741.1:p.Leu410Val
NM_001005742.2:c.1228C>G NP_001005742.1:p.Leu410Val
NM_001171811.1:c.967C>G NP_001165282.1:p.Leu323Val
NM_001171812.1:c.1081C>G NP_001165283.1:p.Leu361Val
XM_006711270.1:c.1228C>G XP_006711333.1:p.Leu410Val
XM_011509407.1:c.1228C>G XP_011507709.1:p.Leu410Val
NM_000157.4:c.1228C>G MANE Select NP_000148.2:p.Leu410Val
NM_001005741.3:c.1228C>G NP_001005741.1:p.Leu410Val
NM_001005742.3:c.1228C>G NP_001005742.1:p.Leu410Val
NM_001171811.2:c.967C>G NP_001165282.1:p.Leu323Val
NM_001171812.2:c.1081C>G NP_001165283.1:p.Leu361Val