Canonical Allele Identifier: CA1141730

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238608T>A , CM000663.2:g.155238608T>A	GRCh38
NC_000001.10:g.155208399T>A , CM000663.1:g.155208399T>A	GRCh37
NC_000001.9:g.153475023T>A	NCBI36
NG_009783.1:g.11090A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.497A>T MANE Select	NP_000148.2:p.Asp166Val
ENST00000368373.8:c.497A>T MANE Select	ENSP00000357357.3:p.Asp166Val
NM_000157.3:c.497A>T	NP_000148.2:p.Asp166Val
NM_001005741.2:c.497A>T	NP_001005741.1:p.Asp166Val
NM_001005741.3:c.497A>T	NP_001005741.1:p.Asp166Val
NM_001005742.2:c.497A>T	NP_001005742.1:p.Asp166Val
NM_001005742.3:c.497A>T	NP_001005742.1:p.Asp166Val
NM_001171811.1:c.236A>T	NP_001165282.1:p.Asp79Val
NM_001171811.2:c.236A>T	NP_001165282.1:p.Asp79Val
NM_001171812.1:c.350A>T	NP_001165283.1:p.Asp117Val
NM_001171812.2:c.350A>T	NP_001165283.1:p.Asp117Val
ENST00000327247.9:c.497A>T	ENSP00000314508.5:p.Asp166Val
ENST00000368373.7:c.497A>T	ENSP00000357357.3:p.Asp166Val
ENST00000427500.7:c.350A>T	ENSP00000402577.2:p.Asp117Val
ENST00000428024.3:c.236A>T	ENSP00000397986.2:p.Asp79Val
ENST00000460156.1:n.284A>T
ENST00000473570.5:n.818A>T
ENST00000484489.5:n.339+1365A>T
ENST00000491081.5:n.102A>T
ENST00000493842.5:n.835A>T
ENST00000497670.5:n.120A>T
XM_006711270.1:c.497A>T	XP_006711333.1:p.Asp166Val
XM_011509407.1:c.497A>T	XP_011507709.1:p.Asp166Val