Canonical Allele Identifier: CA221394
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4295
ClinVar RCV Id: RCV000004528 RCV000004529 RCV000004530 RCV000004531 RCV000020151 RCV000079343 RCV000762852 RCV001004110 RCV004018558
dbSNP Id: rs80356771
ExAC: 1:155204987 G / A
gnomAD v2: 1-155204987-G-A
gnomAD v3: 1-155235196-G-A
gnomAD v4: 1-155235196-G-A
MyVariant Identifiers: chr1:g.155204987G>A (hg19) chr1:g.155235196G>A (hg38)
PubMed: PMID:1348297 PMID:1704891 PMID:1972019 PMID:8118463 PMID:8294487 PMID:9279145 PMID:10796875 PMID:12595585 PMID:18586596 PMID:19286695 PMID:20301446 PMID:24482953 PMID:24522292
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235196G>A , CM000663.2:g.155235196G>A GRCh38
NC_000001.10:g.155204987G>A , CM000663.1:g.155204987G>A GRCh37
NC_000001.9:g.153471611G>A NCBI36
NG_009783.1:g.14502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.1504C>T MANE Select ENSP00000357357.3:p.Arg502Cys
ENST00000327247.9:c.1504C>T ENSP00000314508.5:p.Arg502Cys
ENST00000368373.7:c.1504C>T ENSP00000357357.3:p.Arg502Cys
ENST00000427500.7:c.1357C>T ENSP00000402577.2:p.Arg453Cys
ENST00000428024.3:c.1243C>T ENSP00000397986.2:p.Arg415Cys
ENST00000464536.1:n.191-375C>T
ENST00000478472.1:n.864C>T
ENST00000484489.5:n.663C>T
NM_000157.3:c.1504C>T NP_000148.2:p.Arg502Cys
NM_001005741.2:c.1504C>T NP_001005741.1:p.Arg502Cys
NM_001005742.2:c.1504C>T NP_001005742.1:p.Arg502Cys
NM_001171811.1:c.1243C>T NP_001165282.1:p.Arg415Cys
NM_001171812.1:c.1357C>T NP_001165283.1:p.Arg453Cys
XM_006711270.1:c.1504C>T XP_006711333.1:p.Arg502Cys
XM_011509407.1:c.1504C>T XP_011507709.1:p.Arg502Cys
NM_000157.4:c.1504C>T MANE Select NP_000148.2:p.Arg502Cys
NM_001005741.3:c.1504C>T NP_001005741.1:p.Arg502Cys
NM_001005742.3:c.1504C>T NP_001005742.1:p.Arg502Cys
NM_001171811.2:c.1243C>T NP_001165282.1:p.Arg415Cys
NM_001171812.2:c.1357C>T NP_001165283.1:p.Arg453Cys
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