Canonical Allele Identifier: CA342726383

Gene: GBA1

Linked Data

• dbSNP Id: rs1264796336
• gnomAD v2: 1-155209514-T-C
• gnomAD v4: 1-155239723-T-C
• MyVariant Identifiers: chr1:g.155209514T>C (hg19) ; chr1:g.155239723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239723T>C , CM000663.2:g.155239723T>C	GRCh38
NC_000001.10:g.155209514T>C , CM000663.1:g.155209514T>C	GRCh37
NC_000001.9:g.153476138T>C	NCBI36
NG_009783.1:g.9975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.347A>G MANE Select	ENSP00000357357.3:p.Lys116Arg
ENST00000327247.9:c.347A>G	ENSP00000314508.5:p.Lys116Arg
ENST00000368373.7:c.347A>G	ENSP00000357357.3:p.Lys116Arg
ENST00000427500.7:c.307+163A>G	ENSP00000402577.2:n.307+163A>G
ENST00000428024.3:c.86A>G	ENSP00000397986.2:p.Lys29Arg
ENST00000467918.5:n.537A>G
ENST00000473570.5:n.668A>G
ENST00000484489.5:n.339+250A>G
ENST00000493842.5:n.685A>G
ENST00000497670.5:n.77+163A>G
NM_000157.3:c.347A>G	NP_000148.2:p.Lys116Arg
NM_001005741.2:c.347A>G	NP_001005741.1:p.Lys116Arg
NM_001005742.2:c.347A>G	NP_001005742.1:p.Lys116Arg
NM_001171811.1:c.86A>G	NP_001165282.1:p.Lys29Arg
NM_001171812.1:c.307+163A>G	NP_001165283.1:n.307+163A>G
XM_006711270.1:c.347A>G	XP_006711333.1:p.Lys116Arg
XM_011509407.1:c.347A>G	XP_011507709.1:p.Lys116Arg
NM_000157.4:c.347A>G MANE Select	NP_000148.2:p.Lys116Arg
NM_001005741.3:c.347A>G	NP_001005741.1:p.Lys116Arg
NM_001005742.3:c.347A>G	NP_001005742.1:p.Lys116Arg
NM_001171811.2:c.86A>G	NP_001165282.1:p.Lys29Arg
NM_001171812.2:c.307+163A>G	NP_001165283.1:n.307+163A>G