Canonical Allele Identifier: CA16040607
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93449
dbSNP Id: rs421016

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235252A>C , CM000663.2:g.155235252A>C GRCh38
NC_000001.10:g.155205043A>C , CM000663.1:g.155205043A>C GRCh37
NC_000001.9:g.153471667A>C NCBI36
NG_009783.1:g.14446T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.1448T>G MANE Select ENSP00000357357.3:p.Leu483Arg
ENST00000327247.9:c.1448T>G ENSP00000314508.5:p.Leu483Arg
ENST00000368373.7:c.1448T>G ENSP00000357357.3:p.Leu483Arg
ENST00000427500.7:c.1301T>G ENSP00000402577.2:p.Leu434Arg
ENST00000428024.3:c.1187T>G ENSP00000397986.2:p.Leu396Arg
ENST00000464536.1:n.190+394T>G
ENST00000478472.1:n.808T>G
ENST00000484489.5:n.607T>G
NM_000157.3:c.1448T>G NP_000148.2:p.Leu483Arg
NM_001005741.2:c.1448T>G NP_001005741.1:p.Leu483Arg
NM_001005742.2:c.1448T>G NP_001005742.1:p.Leu483Arg
NM_001171811.1:c.1187T>G NP_001165282.1:p.Leu396Arg
NM_001171812.1:c.1301T>G NP_001165283.1:p.Leu434Arg
XM_006711270.1:c.1448T>G XP_006711333.1:p.Leu483Arg
XM_011509407.1:c.1448T>G XP_011507709.1:p.Leu483Arg
NM_000157.4:c.1448T>G MANE Select NP_000148.2:p.Leu483Arg
NM_001005741.3:c.1448T>G NP_001005741.1:p.Leu483Arg
NM_001005742.3:c.1448T>G NP_001005742.1:p.Leu483Arg
NM_001171811.2:c.1187T>G NP_001165282.1:p.Leu396Arg
NM_001171812.2:c.1301T>G NP_001165283.1:p.Leu434Arg