Canonical Allele Identifier: CA253063

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4296
• ClinVar RCV Id: RCV000004532 ; RCV000781409
• dbSNP Id: rs77829017
• ExAC: 1:155209730 C / T
• gnomAD v2: 1-155209730-C-T
• gnomAD v4: 1-155239939-C-T
• MyVariant Identifiers: chr1:g.155209730C>T (hg19) ; chr1:g.155239939C>T (hg38)
• PubMed: PMID:8829654

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239939C>T , CM000663.2:g.155239939C>T	GRCh38
NC_000001.10:g.155209730C>T , CM000663.1:g.155209730C>T	GRCh37
NC_000001.9:g.153476354C>T	NCBI36
NG_009783.1:g.9759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.254G>A MANE Select	ENSP00000357357.3:p.Gly85Glu
ENST00000327247.9:c.254G>A	ENSP00000314508.5:p.Gly85Glu
ENST00000368373.7:c.254G>A	ENSP00000357357.3:p.Gly85Glu
ENST00000427500.7:c.254G>A	ENSP00000402577.2:p.Gly85Glu
ENST00000428024.3:c.-8G>A	ENSP00000397986.2:n.-8G>A
ENST00000467918.5:n.444G>A
ENST00000473570.5:n.575G>A
ENST00000484489.5:n.339+34G>A
ENST00000493842.5:n.592G>A
ENST00000497670.5:n.24G>A
NM_000157.3:c.254G>A	NP_000148.2:p.Gly85Glu
NM_001005741.2:c.254G>A	NP_001005741.1:p.Gly85Glu
NM_001005742.2:c.254G>A	NP_001005742.1:p.Gly85Glu
NM_001171811.1:c.-8G>A	NP_001165282.1:n.-8G>A
NM_001171812.1:c.254G>A	NP_001165283.1:p.Gly85Glu
XM_006711270.1:c.254G>A	XP_006711333.1:p.Gly85Glu
XM_011509407.1:c.254G>A	XP_011507709.1:p.Gly85Glu
NM_000157.4:c.254G>A MANE Select	NP_000148.2:p.Gly85Glu
NM_001005741.3:c.254G>A	NP_001005741.1:p.Gly85Glu
NM_001005742.3:c.254G>A	NP_001005742.1:p.Gly85Glu
NM_001171811.2:c.-8G>A	NP_001165282.1:n.-8G>A
NM_001171812.2:c.254G>A	NP_001165283.1:p.Gly85Glu