Canonical Allele Identifier: CA253086
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4314
ClinVar RCV Id: RCV000004557 RCV000004558 RCV000020156 RCV000723402 RCV001004131
dbSNP Id: rs364897
ExAC: 1:155208006 T / C
gnomAD v2: 1-155208006-T-C
gnomAD v3: 1-155238215-T-C
gnomAD v4: 1-155238215-T-C
MyVariant Identifiers: chr1:g.155208006T>C (hg19) chr1:g.155238215T>C (hg38)
PubMed: PMID:8829654 PMID:12595585 PMID:15146461 PMID:16086325 PMID:17395504 PMID:20004867 PMID:20301446 PMID:20729108 PMID:21056933 PMID:23891399 PMID:24022302
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155238215T>C , CM000663.2:g.155238215T>C GRCh38
NC_000001.10:g.155208006T>C , CM000663.1:g.155208006T>C GRCh37
NC_000001.9:g.153474630T>C NCBI36
NG_009783.1:g.11483A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.680A>G MANE Select ENSP00000357357.3:p.Asn227Ser
ENST00000327247.9:c.680A>G ENSP00000314508.5:p.Asn227Ser
ENST00000368373.7:c.680A>G ENSP00000357357.3:p.Asn227Ser
ENST00000427500.7:c.533A>G ENSP00000402577.2:p.Asn178Ser
ENST00000428024.3:c.419A>G ENSP00000397986.2:p.Asn140Ser
ENST00000460156.1:n.467A>G
ENST00000484489.5:n.339+1758A>G
ENST00000491081.5:n.285A>G
ENST00000493842.5:n.1018A>G
ENST00000497670.5:n.303A>G
NM_000157.3:c.680A>G NP_000148.2:p.Asn227Ser
NM_001005741.2:c.680A>G NP_001005741.1:p.Asn227Ser
NM_001005742.2:c.680A>G NP_001005742.1:p.Asn227Ser
NM_001171811.1:c.419A>G NP_001165282.1:p.Asn140Ser
NM_001171812.1:c.533A>G NP_001165283.1:p.Asn178Ser
XM_006711270.1:c.680A>G XP_006711333.1:p.Asn227Ser
XM_011509407.1:c.680A>G XP_011507709.1:p.Asn227Ser
NM_000157.4:c.680A>G MANE Select NP_000148.2:p.Asn227Ser
NM_001005741.3:c.680A>G NP_001005741.1:p.Asn227Ser
NM_001005742.3:c.680A>G NP_001005742.1:p.Asn227Ser
NM_001171811.2:c.419A>G NP_001165282.1:p.Asn140Ser
NM_001171812.2:c.533A>G NP_001165283.1:p.Asn178Ser
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