Canonical Allele Identifier: CA253081

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4310
• ClinVar RCV Id: RCV000004552 ; RCV001171764
• dbSNP Id: rs121908301
• MyVariant Identifiers: chr1:g.155204848C>T (hg19) ; chr1:g.155235057C>T (hg38)
• PubMed: PMID:8516282

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235057C>T , CM000663.2:g.155235057C>T	GRCh38
NC_000001.10:g.155204848C>T , CM000663.1:g.155204848C>T	GRCh37
NC_000001.9:g.153471472C>T	NCBI36
NG_009783.1:g.14641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1549G>A MANE Select	ENSP00000357357.3:p.Gly517Ser
ENST00000327247.9:c.1549G>A	ENSP00000314508.5:p.Gly517Ser
ENST00000368373.7:c.1549G>A	ENSP00000357357.3:p.Gly517Ser
ENST00000427500.7:c.1402G>A	ENSP00000402577.2:p.Gly468Ser
ENST00000428024.3:c.1288G>A	ENSP00000397986.2:p.Gly430Ser
ENST00000464536.1:n.191-236G>A
ENST00000478472.1:n.909G>A
ENST00000484489.5:n.708G>A
NM_000157.3:c.1549G>A	NP_000148.2:p.Gly517Ser
NM_001005741.2:c.1549G>A	NP_001005741.1:p.Gly517Ser
NM_001005742.2:c.1549G>A	NP_001005742.1:p.Gly517Ser
NM_001171811.1:c.1288G>A	NP_001165282.1:p.Gly430Ser
NM_001171812.1:c.1402G>A	NP_001165283.1:p.Gly468Ser
XM_006711270.1:c.1549G>A	XP_006711333.1:p.Gly517Ser
XM_011509407.1:c.1549G>A	XP_011507709.1:p.Gly517Ser
NM_000157.4:c.1549G>A MANE Select	NP_000148.2:p.Gly517Ser
NM_001005741.3:c.1549G>A	NP_001005741.1:p.Gly517Ser
NM_001005742.3:c.1549G>A	NP_001005742.1:p.Gly517Ser
NM_001171811.2:c.1288G>A	NP_001165282.1:p.Gly430Ser
NM_001171812.2:c.1402G>A	NP_001165283.1:p.Gly468Ser