Canonical Allele Identifier: CA342724583

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238615T>G , CM000663.2:g.155238615T>G	GRCh38
NC_000001.10:g.155208406T>G , CM000663.1:g.155208406T>G	GRCh37
NC_000001.9:g.153475030T>G	NCBI36
NG_009783.1:g.11083A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.490A>C MANE Select	NP_000148.2:p.Ser164Arg
ENST00000368373.8:c.490A>C MANE Select	ENSP00000357357.3:p.Ser164Arg
NM_000157.3:c.490A>C	NP_000148.2:p.Ser164Arg
NM_001005741.2:c.490A>C	NP_001005741.1:p.Ser164Arg
NM_001005741.3:c.490A>C	NP_001005741.1:p.Ser164Arg
NM_001005742.2:c.490A>C	NP_001005742.1:p.Ser164Arg
NM_001005742.3:c.490A>C	NP_001005742.1:p.Ser164Arg
NM_001171811.1:c.229A>C	NP_001165282.1:p.Ser77Arg
NM_001171811.2:c.229A>C	NP_001165282.1:p.Ser77Arg
NM_001171812.1:c.343A>C	NP_001165283.1:p.Ser115Arg
NM_001171812.2:c.343A>C	NP_001165283.1:p.Ser115Arg
ENST00000327247.9:c.490A>C	ENSP00000314508.5:p.Ser164Arg
ENST00000368373.7:c.490A>C	ENSP00000357357.3:p.Ser164Arg
ENST00000427500.7:c.343A>C	ENSP00000402577.2:p.Ser115Arg
ENST00000428024.3:c.229A>C	ENSP00000397986.2:p.Ser77Arg
ENST00000460156.1:n.277A>C
ENST00000473570.5:n.811A>C
ENST00000484489.5:n.339+1358A>C
ENST00000491081.5:n.95A>C
ENST00000493842.5:n.828A>C
ENST00000497670.5:n.113A>C
XM_006711270.1:c.490A>C	XP_006711333.1:p.Ser164Arg
XM_011509407.1:c.490A>C	XP_011507709.1:p.Ser164Arg