Canonical Allele Identifier: CA253081
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4310
ClinVar RCV Id: RCV000004552 RCV001171764
dbSNP Id: rs121908301
MyVariant Identifiers: chr1:g.155204848C>T (hg19) chr1:g.155235057C>T (hg38)
PubMed: PMID:8516282
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235057C>T , CM000663.2:g.155235057C>T GRCh38
NC_000001.10:g.155204848C>T , CM000663.1:g.155204848C>T GRCh37
NC_000001.9:g.153471472C>T NCBI36
NG_009783.1:g.14641G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.1549G>A MANE Select ENSP00000357357.3:p.Gly517Ser
ENST00000327247.9:c.1549G>A ENSP00000314508.5:p.Gly517Ser
ENST00000368373.7:c.1549G>A ENSP00000357357.3:p.Gly517Ser
ENST00000427500.7:c.1402G>A ENSP00000402577.2:p.Gly468Ser
ENST00000428024.3:c.1288G>A ENSP00000397986.2:p.Gly430Ser
ENST00000464536.1:n.191-236G>A
ENST00000478472.1:n.909G>A
ENST00000484489.5:n.708G>A
NM_000157.3:c.1549G>A NP_000148.2:p.Gly517Ser
NM_001005741.2:c.1549G>A NP_001005741.1:p.Gly517Ser
NM_001005742.2:c.1549G>A NP_001005742.1:p.Gly517Ser
NM_001171811.1:c.1288G>A NP_001165282.1:p.Gly430Ser
NM_001171812.1:c.1402G>A NP_001165283.1:p.Gly468Ser
XM_006711270.1:c.1549G>A XP_006711333.1:p.Gly517Ser
XM_011509407.1:c.1549G>A XP_011507709.1:p.Gly517Ser
NM_000157.4:c.1549G>A MANE Select NP_000148.2:p.Gly517Ser
NM_001005741.3:c.1549G>A NP_001005741.1:p.Gly517Ser
NM_001005742.3:c.1549G>A NP_001005742.1:p.Gly517Ser
NM_001171811.2:c.1288G>A NP_001165282.1:p.Gly430Ser
NM_001171812.2:c.1402G>A NP_001165283.1:p.Gly468Ser
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