Canonical Allele Identifier: CA342726467
Gene: GBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155239736G>T , CM000663.2:g.155239736G>T GRCh38
NC_000001.10:g.155209527G>T , CM000663.1:g.155209527G>T GRCh37
NC_000001.9:g.153476151G>T NCBI36
NG_009783.1:g.9962C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.334C>A MANE Select ENSP00000357357.3:p.Gln112Lys
ENST00000327247.9:c.334C>A ENSP00000314508.5:p.Gln112Lys
ENST00000368373.7:c.334C>A ENSP00000357357.3:p.Gln112Lys
ENST00000427500.7:c.307+150C>A ENSP00000402577.2:n.307+150C>A
ENST00000428024.3:c.73C>A ENSP00000397986.2:p.Gln25Lys
ENST00000467918.5:n.524C>A
ENST00000473570.5:n.655C>A
ENST00000484489.5:n.339+237C>A
ENST00000493842.5:n.672C>A
ENST00000497670.5:n.77+150C>A
NM_000157.3:c.334C>A NP_000148.2:p.Gln112Lys
NM_001005741.2:c.334C>A NP_001005741.1:p.Gln112Lys
NM_001005742.2:c.334C>A NP_001005742.1:p.Gln112Lys
NM_001171811.1:c.73C>A NP_001165282.1:p.Gln25Lys
NM_001171812.1:c.307+150C>A NP_001165283.1:n.307+150C>A
XM_006711270.1:c.334C>A XP_006711333.1:p.Gln112Lys
XM_011509407.1:c.334C>A XP_011507709.1:p.Gln112Lys
NM_000157.4:c.334C>A MANE Select NP_000148.2:p.Gln112Lys
NM_001005741.3:c.334C>A NP_001005741.1:p.Gln112Lys
NM_001005742.3:c.334C>A NP_001005742.1:p.Gln112Lys
NM_001171811.2:c.73C>A NP_001165282.1:p.Gln25Lys
NM_001171812.2:c.307+150C>A NP_001165283.1:n.307+150C>A