Canonical Allele Identifier: CA234081

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4311
• ClinVar RCV Id: RCV000004553 ; RCV000020153 ; RCV000762851 ; RCV000790684 ; RCV001004108 ; RCV001836698 ; RCV004018560
• dbSNP Id: rs75822236
• ExAC: 1:155204793 C / T
• gnomAD v2: 1-155204793-C-T
• gnomAD v3: 1-155235002-C-T
• gnomAD v4: 1-155235002-C-T
• MyVariant Identifiers: chr1:g.155204793C>T (hg19) ; chr1:g.155235002C>T (hg38)
• PubMed: PMID:8432537 ; PMID:8516282 ; PMID:16293621 ; PMID:20301446 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235002C>T , CM000663.2:g.155235002C>T	GRCh38
NC_000001.10:g.155204793C>T , CM000663.1:g.155204793C>T	GRCh37
NC_000001.9:g.153471417C>T	NCBI36
NG_009783.1:g.14696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1604G>A MANE Select	ENSP00000357357.3:p.Arg535His
ENST00000327247.9:c.1604G>A	ENSP00000314508.5:p.Arg535His
ENST00000368373.7:c.1604G>A	ENSP00000357357.3:p.Arg535His
ENST00000427500.7:c.1457G>A	ENSP00000402577.2:p.Arg486His
ENST00000428024.3:c.1343G>A	ENSP00000397986.2:p.Arg448His
ENST00000464536.1:n.191-181G>A
ENST00000478472.1:n.964G>A
NM_000157.3:c.1604G>A	NP_000148.2:p.Arg535His
NM_001005741.2:c.1604G>A	NP_001005741.1:p.Arg535His
NM_001005742.2:c.1604G>A	NP_001005742.1:p.Arg535His
NM_001171811.1:c.1343G>A	NP_001165282.1:p.Arg448His
NM_001171812.1:c.1457G>A	NP_001165283.1:p.Arg486His
XM_006711270.1:c.1604G>A	XP_006711333.1:p.Arg535His
XM_011509407.1:c.1604G>A	XP_011507709.1:p.Arg535His
NM_000157.4:c.1604G>A MANE Select	NP_000148.2:p.Arg535His
NM_001005741.3:c.1604G>A	NP_001005741.1:p.Arg535His
NM_001005742.3:c.1604G>A	NP_001005742.1:p.Arg535His
NM_001171811.2:c.1343G>A	NP_001165282.1:p.Arg448His
NM_001171812.2:c.1457G>A	NP_001165283.1:p.Arg486His