Canonical Allele Identifier: CA253098
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4321
dbSNP Id: rs1141814

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155239934G>A , CM000663.2:g.155239934G>A GRCh38
NC_000001.10:g.155209725G>A , CM000663.1:g.155209725G>A GRCh37
NC_000001.9:g.153476349G>A NCBI36
NG_009783.1:g.9764C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.259C>T MANE Select ENSP00000357357.3:p.Arg87Trp
ENST00000327247.9:c.259C>T ENSP00000314508.5:p.Arg87Trp
ENST00000368373.7:c.259C>T ENSP00000357357.3:p.Arg87Trp
ENST00000427500.7:c.259C>T ENSP00000402577.2:p.Arg87Trp
ENST00000428024.3:c.-3C>T ENSP00000397986.2:n.-3C>T
ENST00000467918.5:n.449C>T
ENST00000473570.5:n.580C>T
ENST00000484489.5:n.339+39C>T
ENST00000493842.5:n.597C>T
ENST00000497670.5:n.29C>T
NM_000157.3:c.259C>T NP_000148.2:p.Arg87Trp
NM_001005741.2:c.259C>T NP_001005741.1:p.Arg87Trp
NM_001005742.2:c.259C>T NP_001005742.1:p.Arg87Trp
NM_001171811.1:c.-3C>T NP_001165282.1:n.-3C>T
NM_001171812.1:c.259C>T NP_001165283.1:p.Arg87Trp
XM_006711270.1:c.259C>T XP_006711333.1:p.Arg87Trp
XM_011509407.1:c.259C>T XP_011507709.1:p.Arg87Trp
NM_000157.4:c.259C>T MANE Select NP_000148.2:p.Arg87Trp
NM_001005741.3:c.259C>T NP_001005741.1:p.Arg87Trp
NM_001005742.3:c.259C>T NP_001005742.1:p.Arg87Trp
NM_001171811.2:c.-3C>T NP_001165282.1:n.-3C>T
NM_001171812.2:c.259C>T NP_001165283.1:p.Arg87Trp