Canonical Allele Identifier: CA342713575
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 505377
ClinVar RCV Id: RCV000607009
dbSNP Id: rs149171124

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235790C>A , CM000663.2:g.155235790C>A GRCh38
NC_000001.10:g.155205581C>A , CM000663.1:g.155205581C>A GRCh37
NC_000001.9:g.153472205C>A NCBI36
NG_009783.1:g.13908G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.1279G>T MANE Select ENSP00000357357.3:p.Glu427Ter
ENST00000327247.9:c.1279G>T ENSP00000314508.5:p.Glu427Ter
ENST00000368373.7:c.1279G>T ENSP00000357357.3:p.Glu427Ter
ENST00000427500.7:c.1132G>T ENSP00000402577.2:p.Glu378Ter
ENST00000428024.3:c.1018G>T ENSP00000397986.2:p.Glu340Ter
ENST00000464536.1:n.46G>T
ENST00000478472.1:n.270G>T
ENST00000484489.5:n.438G>T
NM_000157.3:c.1279G>T NP_000148.2:p.Glu427Ter
NM_001005741.2:c.1279G>T NP_001005741.1:p.Glu427Ter
NM_001005742.2:c.1279G>T NP_001005742.1:p.Glu427Ter
NM_001171811.1:c.1018G>T NP_001165282.1:p.Glu340Ter
NM_001171812.1:c.1132G>T NP_001165283.1:p.Glu378Ter
XM_006711270.1:c.1279G>T XP_006711333.1:p.Glu427Ter
XM_011509407.1:c.1279G>T XP_011507709.1:p.Glu427Ter
NM_000157.4:c.1279G>T MANE Select NP_000148.2:p.Glu427Ter
NM_001005741.3:c.1279G>T NP_001005741.1:p.Glu427Ter
NM_001005742.3:c.1279G>T NP_001005742.1:p.Glu427Ter
NM_001171811.2:c.1018G>T NP_001165282.1:p.Glu340Ter
NM_001171812.2:c.1132G>T NP_001165283.1:p.Glu378Ter