Canonical Allele Identifier: CA342718881

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237394G>A , CM000663.2:g.155237394G>A	GRCh38
NC_000001.10:g.155207185G>A , CM000663.1:g.155207185G>A	GRCh37
NC_000001.9:g.153473809G>A	NCBI36
NG_009783.1:g.12304C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.946C>T MANE Select	NP_000148.2:p.Arg316Cys
ENST00000368373.8:c.946C>T MANE Select	ENSP00000357357.3:p.Arg316Cys
NM_000157.3:c.946C>T	NP_000148.2:p.Arg316Cys
NM_001005741.2:c.946C>T	NP_001005741.1:p.Arg316Cys
NM_001005741.3:c.946C>T	NP_001005741.1:p.Arg316Cys
NM_001005742.2:c.946C>T	NP_001005742.1:p.Arg316Cys
NM_001005742.3:c.946C>T	NP_001005742.1:p.Arg316Cys
NM_001171811.1:c.685C>T	NP_001165282.1:p.Arg229Cys
NM_001171811.2:c.685C>T	NP_001165282.1:p.Arg229Cys
NM_001171812.1:c.799C>T	NP_001165283.1:p.Arg267Cys
NM_001171812.2:c.799C>T	NP_001165283.1:p.Arg267Cys
ENST00000327247.9:c.946C>T	ENSP00000314508.5:p.Arg316Cys
ENST00000368373.7:c.946C>T	ENSP00000357357.3:p.Arg316Cys
ENST00000427500.7:c.799C>T	ENSP00000402577.2:p.Arg267Cys
ENST00000428024.3:c.685C>T	ENSP00000397986.2:p.Arg229Cys
ENST00000484489.5:n.340-1106C>T
ENST00000491081.5:n.551C>T
ENST00000497670.5:n.569C>T
XM_006711270.1:c.946C>T	XP_006711333.1:p.Arg316Cys
XM_011509407.1:c.946C>T	XP_011507709.1:p.Arg316Cys