Canonical Allele Identifier: CA221411

Gene: GBA1

Linked Data

• ClinVar Variation Id: 93459
• ClinVar RCV Id: RCV000589250 ; RCV001004128 ; RCV000675275 ; RCV002468565 ; RCV003448261
• dbSNP Id: rs409652
• ExAC: 1:155207965 C / T
• gnomAD v2: 1-155207965-C-T
• gnomAD v3: 1-155238174-C-T
• gnomAD v4: 1-155238174-C-T
• COSMIC: COSM6058338
• MyVariant Identifiers: chr1:g.155207965C>T (hg19) ; chr1:g.155238174C>T (hg38)
• PubMed: PMID:9153297 ; PMID:12791040

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238174C>T , CM000663.2:g.155238174C>T	GRCh38
NC_000001.10:g.155207965C>T , CM000663.1:g.155207965C>T	GRCh37
NC_000001.9:g.153474589C>T	NCBI36
NG_009783.1:g.11524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.721G>A MANE Select	ENSP00000357357.3:p.Gly241Arg
ENST00000327247.9:c.721G>A	ENSP00000314508.5:p.Gly241Arg
ENST00000368373.7:c.721G>A	ENSP00000357357.3:p.Gly241Arg
ENST00000427500.7:c.574G>A	ENSP00000402577.2:p.Gly192Arg
ENST00000428024.3:c.460G>A	ENSP00000397986.2:p.Gly154Arg
ENST00000460156.1:n.508G>A
ENST00000484489.5:n.339+1799G>A
ENST00000491081.5:n.326G>A
ENST00000497670.5:n.344G>A
NM_000157.3:c.721G>A	NP_000148.2:p.Gly241Arg
NM_001005741.2:c.721G>A	NP_001005741.1:p.Gly241Arg
NM_001005742.2:c.721G>A	NP_001005742.1:p.Gly241Arg
NM_001171811.1:c.460G>A	NP_001165282.1:p.Gly154Arg
NM_001171812.1:c.574G>A	NP_001165283.1:p.Gly192Arg
XM_006711270.1:c.721G>A	XP_006711333.1:p.Gly241Arg
XM_011509407.1:c.721G>A	XP_011507709.1:p.Gly241Arg
NM_000157.4:c.721G>A MANE Select	NP_000148.2:p.Gly241Arg
NM_001005741.3:c.721G>A	NP_001005741.1:p.Gly241Arg
NM_001005742.3:c.721G>A	NP_001005742.1:p.Gly241Arg
NM_001171811.2:c.460G>A	NP_001165282.1:p.Gly154Arg
NM_001171812.2:c.574G>A	NP_001165283.1:p.Gly192Arg