Canonical Allele Identifier: CA146982
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93451
dbSNP Id: rs1135675

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235203C>G , CM000663.2:g.155235203C>G GRCh38
NC_000001.10:g.155204994C>G , CM000663.1:g.155204994C>G GRCh37
NC_000001.9:g.153471618C>G NCBI36
NG_009783.1:g.14495G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.1497G>C MANE Select ENSP00000357357.3:p.Val499=
ENST00000327247.9:c.1497G>C ENSP00000314508.5:p.Val499=
ENST00000368373.7:c.1497G>C ENSP00000357357.3:p.Val499=
ENST00000427500.7:c.1350G>C ENSP00000402577.2:p.Val450=
ENST00000428024.3:c.1236G>C ENSP00000397986.2:p.Val412=
ENST00000464536.1:n.191-382G>C
ENST00000478472.1:n.857G>C
ENST00000484489.5:n.656G>C
NM_000157.3:c.1497G>C NP_000148.2:p.Val499=
NM_001005741.2:c.1497G>C NP_001005741.1:p.Val499=
NM_001005742.2:c.1497G>C NP_001005742.1:p.Val499=
NM_001171811.1:c.1236G>C NP_001165282.1:p.Val412=
NM_001171812.1:c.1350G>C NP_001165283.1:p.Val450=
XM_006711270.1:c.1497G>C XP_006711333.1:p.Val499=
XM_011509407.1:c.1497G>C XP_011507709.1:p.Val499=
NM_000157.4:c.1497G>C MANE Select NP_000148.2:p.Val499=
NM_001005741.3:c.1497G>C NP_001005741.1:p.Val499=
NM_001005742.3:c.1497G>C NP_001005742.1:p.Val499=
NM_001171811.2:c.1236G>C NP_001165282.1:p.Val412=
NM_001171812.2:c.1350G>C NP_001165283.1:p.Val450=