Canonical Allele Identifier: CA341581

Gene: GBA1

Linked Data

• ClinVar Variation Id: 21072
• ClinVar RCV Id: RCV000020157 ; RCV000625849 ; RCV001004129 ; RCV002504814 ; RCV003237414 ; RCV004018648
• dbSNP Id: rs1064644
• ExAC: 1:155207983 A / G
• gnomAD v2: 1-155207983-A-G
• gnomAD v3: 1-155238192-A-G
• gnomAD v4: 1-155238192-A-G
• MyVariant Identifiers: chr1:g.155207983A>G (hg19) ; chr1:g.155238192A>G (hg38)
• PubMed: PMID:10649495 ; PMID:10685993 ; PMID:10796875 ; PMID:20301446

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238192A>G , CM000663.2:g.155238192A>G	GRCh38
NC_000001.10:g.155207983A>G , CM000663.1:g.155207983A>G	GRCh37
NC_000001.9:g.153474607A>G	NCBI36
NG_009783.1:g.11506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.703T>C MANE Select	ENSP00000357357.3:p.Ser235Pro
ENST00000327247.9:c.703T>C	ENSP00000314508.5:p.Ser235Pro
ENST00000368373.7:c.703T>C	ENSP00000357357.3:p.Ser235Pro
ENST00000427500.7:c.556T>C	ENSP00000402577.2:p.Ser186Pro
ENST00000428024.3:c.442T>C	ENSP00000397986.2:p.Ser148Pro
ENST00000460156.1:n.490T>C
ENST00000484489.5:n.339+1781T>C
ENST00000491081.5:n.308T>C
ENST00000497670.5:n.326T>C
NM_000157.3:c.703T>C	NP_000148.2:p.Ser235Pro
NM_001005741.2:c.703T>C	NP_001005741.1:p.Ser235Pro
NM_001005742.2:c.703T>C	NP_001005742.1:p.Ser235Pro
NM_001171811.1:c.442T>C	NP_001165282.1:p.Ser148Pro
NM_001171812.1:c.556T>C	NP_001165283.1:p.Ser186Pro
XM_006711270.1:c.703T>C	XP_006711333.1:p.Ser235Pro
XM_011509407.1:c.703T>C	XP_011507709.1:p.Ser235Pro
NM_000157.4:c.703T>C MANE Select	NP_000148.2:p.Ser235Pro
NM_001005741.3:c.703T>C	NP_001005741.1:p.Ser235Pro
NM_001005742.3:c.703T>C	NP_001005742.1:p.Ser235Pro
NM_001171811.2:c.442T>C	NP_001165282.1:p.Ser148Pro
NM_001171812.2:c.556T>C	NP_001165283.1:p.Ser186Pro