Canonical Allele Identifier: CA028590

Gene: GBA1

Linked Data

• ClinVar Variation Id: 242810
• ClinVar RCV Id: RCV000589369 ; RCV001004126 ; RCV001248861 ; RCV001329068 ; RCV001195955 ; RCV002247685
• dbSNP Id: rs367968666
• ExAC: 1:155207249 A / C
• gnomAD v2: 1-155207249-A-C
• gnomAD v3: 1-155237458-A-C
• gnomAD v4: 1-155237458-A-C
• MyVariant Identifiers: chr1:g.155207249A>C (hg19) ; chr1:g.155237458A>C (hg38)
• PubMed: PMID:10649495 ; PMID:15605411 ; PMID:15690354 ; PMID:18429048 ; PMID:21745757 ; PMID:22812582 ; PMID:23426826 ; PMID:26847548 ; PMID:27094865

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237458A>C , CM000663.2:g.155237458A>C	GRCh38
NC_000001.10:g.155207249A>C , CM000663.1:g.155207249A>C	GRCh37
NC_000001.9:g.153473873A>C	NCBI36
NG_009783.1:g.12240T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.882T>G MANE Select	ENSP00000357357.3:p.His294Gln
ENST00000327247.9:c.882T>G	ENSP00000314508.5:p.His294Gln
ENST00000368373.7:c.882T>G	ENSP00000357357.3:p.His294Gln
ENST00000427500.7:c.735T>G	ENSP00000402577.2:p.His245Gln
ENST00000428024.3:c.621T>G	ENSP00000397986.2:p.His207Gln
ENST00000484489.5:n.340-1170T>G
ENST00000491081.5:n.487T>G
ENST00000497670.5:n.505T>G
NM_000157.3:c.882T>G	NP_000148.2:p.His294Gln
NM_001005741.2:c.882T>G	NP_001005741.1:p.His294Gln
NM_001005742.2:c.882T>G	NP_001005742.1:p.His294Gln
NM_001171811.1:c.621T>G	NP_001165282.1:p.His207Gln
NM_001171812.1:c.735T>G	NP_001165283.1:p.His245Gln
XM_006711270.1:c.882T>G	XP_006711333.1:p.His294Gln
XM_011509407.1:c.882T>G	XP_011507709.1:p.His294Gln
NM_000157.4:c.882T>G MANE Select	NP_000148.2:p.His294Gln
NM_001005741.3:c.882T>G	NP_001005741.1:p.His294Gln
NM_001005742.3:c.882T>G	NP_001005742.1:p.His294Gln
NM_001171811.2:c.621T>G	NP_001165282.1:p.His207Gln
NM_001171812.2:c.735T>G	NP_001165283.1:p.His245Gln