Canonical Allele Identifier: CA253057

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4291
• ClinVar RCV Id: RCV000004519 ; RCV000004518 ; RCV000020154 ; RCV001250522 ; RCV001781178
• dbSNP Id: rs79653797
• gnomAD v2: 1-155208420-C-T
• gnomAD v3: 1-155238629-C-T
• gnomAD v4: 1-155238629-C-T
• MyVariant Identifiers: chr1:g.155208420C>T (hg19) ; chr1:g.155238629C>T (hg38)
• PubMed: PMID:1899336 ; PMID:3180993 ; PMID:15214004 ; PMID:20301446

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238629C>T , CM000663.2:g.155238629C>T	GRCh38
NC_000001.10:g.155208420C>T , CM000663.1:g.155208420C>T	GRCh37
NC_000001.9:g.153475044C>T	NCBI36
NG_009783.1:g.11069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.476G>A MANE Select	ENSP00000357357.3:p.Arg159Gln
ENST00000327247.9:c.476G>A	ENSP00000314508.5:p.Arg159Gln
ENST00000368373.7:c.476G>A	ENSP00000357357.3:p.Arg159Gln
ENST00000427500.7:c.329G>A	ENSP00000402577.2:p.Arg110Gln
ENST00000428024.3:c.215G>A	ENSP00000397986.2:p.Arg72Gln
ENST00000460156.1:n.263G>A
ENST00000473570.5:n.797G>A
ENST00000484489.5:n.339+1344G>A
ENST00000491081.5:n.81G>A
ENST00000493842.5:n.814G>A
ENST00000497670.5:n.99G>A
NM_000157.3:c.476G>A	NP_000148.2:p.Arg159Gln
NM_001005741.2:c.476G>A	NP_001005741.1:p.Arg159Gln
NM_001005742.2:c.476G>A	NP_001005742.1:p.Arg159Gln
NM_001171811.1:c.215G>A	NP_001165282.1:p.Arg72Gln
NM_001171812.1:c.329G>A	NP_001165283.1:p.Arg110Gln
XM_006711270.1:c.476G>A	XP_006711333.1:p.Arg159Gln
XM_011509407.1:c.476G>A	XP_011507709.1:p.Arg159Gln
NM_000157.4:c.476G>A MANE Select	NP_000148.2:p.Arg159Gln
NM_001005741.3:c.476G>A	NP_001005741.1:p.Arg159Gln
NM_001005742.3:c.476G>A	NP_001005742.1:p.Arg159Gln
NM_001171811.2:c.215G>A	NP_001165282.1:p.Arg72Gln
NM_001171812.2:c.329G>A	NP_001165283.1:p.Arg110Gln