Canonical Allele Identifier: CA221413
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4301
ClinVar RCV Id: RCV002460883 RCV002482827
dbSNP Id: rs381737
ExAC: 1:155207932 A / T
gnomAD v2: 1-155207932-A-T
gnomAD v3: 1-155238141-A-T
gnomAD v4: 1-155238141-A-T
MyVariant Identifiers: chr1:g.155207932A>T (hg19) chr1:g.155238141A>T (hg38)
PubMed: PMID:1301953 PMID:1840477 PMID:20301446
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155238141A>T , CM000663.2:g.155238141A>T GRCh38
NC_000001.10:g.155207932A>T , CM000663.1:g.155207932A>T GRCh37
NC_000001.9:g.153474556A>T NCBI36
NG_009783.1:g.11557T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.754T>A MANE Select ENSP00000357357.3:p.Phe252Ile
ENST00000327247.9:c.754T>A ENSP00000314508.5:p.Phe252Ile
ENST00000368373.7:c.754T>A ENSP00000357357.3:p.Phe252Ile
ENST00000427500.7:c.607T>A ENSP00000402577.2:p.Phe203Ile
ENST00000428024.3:c.493T>A ENSP00000397986.2:p.Phe165Ile
ENST00000460156.1:n.541T>A
ENST00000484489.5:n.339+1832T>A
ENST00000491081.5:n.359T>A
ENST00000497670.5:n.377T>A
NM_000157.3:c.754T>A NP_000148.2:p.Phe252Ile
NM_001005741.2:c.754T>A NP_001005741.1:p.Phe252Ile
NM_001005742.2:c.754T>A NP_001005742.1:p.Phe252Ile
NM_001171811.1:c.493T>A NP_001165282.1:p.Phe165Ile
NM_001171812.1:c.607T>A NP_001165283.1:p.Phe203Ile
XM_006711270.1:c.754T>A XP_006711333.1:p.Phe252Ile
XM_011509407.1:c.754T>A XP_011507709.1:p.Phe252Ile
NM_000157.4:c.754T>A MANE Select NP_000148.2:p.Phe252Ile
NM_001005741.3:c.754T>A NP_001005741.1:p.Phe252Ile
NM_001005742.3:c.754T>A NP_001005742.1:p.Phe252Ile
NM_001171811.2:c.493T>A NP_001165282.1:p.Phe165Ile
NM_001171812.2:c.607T>A NP_001165283.1:p.Phe203Ile
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