Canonical Allele Identifier: CA203596

Gene: GBA1

Linked Data

• ClinVar Variation Id: 198756
• ClinVar RCV Id: RCV000180195 ; RCV000590360 ; RCV002503698
• dbSNP Id: rs140335079
• ExAC: 1:155207387 A / T
• gnomAD v2: 1-155207387-A-T
• gnomAD v3: 1-155237596-A-T
• gnomAD v4: 1-155237596-A-T
• MyVariant Identifiers: chr1:g.155207387A>T (hg19) ; chr1:g.155237596A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237596A>T , CM000663.2:g.155237596A>T	GRCh38
NC_000001.10:g.155207387A>T , CM000663.1:g.155207387A>T	GRCh37
NC_000001.9:g.153474011A>T	NCBI36
NG_009783.1:g.12102T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.762-18T>A MANE Select	ENSP00000357357.3:n.762-18T>A
ENST00000327247.9:c.762-18T>A	ENSP00000314508.5:n.762-18T>A
ENST00000368373.7:c.762-18T>A	ENSP00000357357.3:n.762-18T>A
ENST00000427500.7:c.615-18T>A	ENSP00000402577.2:n.615-18T>A
ENST00000428024.3:c.501-18T>A	ENSP00000397986.2:n.501-18T>A
ENST00000484489.5:n.340-1308T>A
ENST00000491081.5:n.367-18T>A
ENST00000497670.5:n.385-18T>A
NM_000157.3:c.762-18T>A	NP_000148.2:n.762-18T>A
NM_001005741.2:c.762-18T>A	NP_001005741.1:n.762-18T>A
NM_001005742.2:c.762-18T>A	NP_001005742.1:n.762-18T>A
NM_001171811.1:c.501-18T>A	NP_001165282.1:n.501-18T>A
NM_001171812.1:c.615-18T>A	NP_001165283.1:n.615-18T>A
XM_006711270.1:c.762-18T>A	XP_006711333.1:n.762-18T>A
XM_011509407.1:c.762-18T>A	XP_011507709.1:n.762-18T>A
NM_000157.4:c.762-18T>A MANE Select	NP_000148.2:n.762-18T>A
NM_001005741.3:c.762-18T>A	NP_001005741.1:n.762-18T>A
NM_001005742.3:c.762-18T>A	NP_001005742.1:n.762-18T>A
NM_001171811.2:c.501-18T>A	NP_001165282.1:n.501-18T>A
NM_001171812.2:c.615-18T>A	NP_001165283.1:n.615-18T>A