Canonical Allele Identifier: CA1141803

Gene: GBA1

Linked Data

• ClinVar Variation Id: 2579726
• ClinVar RCV Id: RCV003328522
• dbSNP Id: rs144173415
• ExAC: 1:155209727 C / T
• gnomAD v2: 1-155209727-C-T
• gnomAD v3: 1-155239936-C-T
• gnomAD v4: 1-155239936-C-T
• MyVariant Identifiers: chr1:g.155209727C>T (hg19) ; chr1:g.155239936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239936C>T , CM000663.2:g.155239936C>T	GRCh38
NC_000001.10:g.155209727C>T , CM000663.1:g.155209727C>T	GRCh37
NC_000001.9:g.153476351C>T	NCBI36
NG_009783.1:g.9762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.257G>A MANE Select	ENSP00000357357.3:p.Arg86Gln
ENST00000327247.9:c.257G>A	ENSP00000314508.5:p.Arg86Gln
ENST00000368373.7:c.257G>A	ENSP00000357357.3:p.Arg86Gln
ENST00000427500.7:c.257G>A	ENSP00000402577.2:p.Arg86Gln
ENST00000428024.3:c.-5G>A	ENSP00000397986.2:n.-5G>A
ENST00000467918.5:n.447G>A
ENST00000473570.5:n.578G>A
ENST00000484489.5:n.339+37G>A
ENST00000493842.5:n.595G>A
ENST00000497670.5:n.27G>A
NM_000157.3:c.257G>A	NP_000148.2:p.Arg86Gln
NM_001005741.2:c.257G>A	NP_001005741.1:p.Arg86Gln
NM_001005742.2:c.257G>A	NP_001005742.1:p.Arg86Gln
NM_001171811.1:c.-5G>A	NP_001165282.1:n.-5G>A
NM_001171812.1:c.257G>A	NP_001165283.1:p.Arg86Gln
XM_006711270.1:c.257G>A	XP_006711333.1:p.Arg86Gln
XM_011509407.1:c.257G>A	XP_011507709.1:p.Arg86Gln
NM_000157.4:c.257G>A MANE Select	NP_000148.2:p.Arg86Gln
NM_001005741.3:c.257G>A	NP_001005741.1:p.Arg86Gln
NM_001005742.3:c.257G>A	NP_001005742.1:p.Arg86Gln
NM_001171811.2:c.-5G>A	NP_001165282.1:n.-5G>A
NM_001171812.2:c.257G>A	NP_001165283.1:p.Arg86Gln