Canonical Allele Identifier: CA342722151

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238215T>A , CM000663.2:g.155238215T>A	GRCh38
NC_000001.10:g.155208006T>A , CM000663.1:g.155208006T>A	GRCh37
NC_000001.9:g.153474630T>A	NCBI36
NG_009783.1:g.11483A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.680A>T MANE Select	NP_000148.2:p.Asn227Ile
ENST00000368373.8:c.680A>T MANE Select	ENSP00000357357.3:p.Asn227Ile
NM_000157.3:c.680A>T	NP_000148.2:p.Asn227Ile
NM_001005741.2:c.680A>T	NP_001005741.1:p.Asn227Ile
NM_001005741.3:c.680A>T	NP_001005741.1:p.Asn227Ile
NM_001005742.2:c.680A>T	NP_001005742.1:p.Asn227Ile
NM_001005742.3:c.680A>T	NP_001005742.1:p.Asn227Ile
NM_001171811.1:c.419A>T	NP_001165282.1:p.Asn140Ile
NM_001171811.2:c.419A>T	NP_001165282.1:p.Asn140Ile
NM_001171812.1:c.533A>T	NP_001165283.1:p.Asn178Ile
NM_001171812.2:c.533A>T	NP_001165283.1:p.Asn178Ile
ENST00000327247.9:c.680A>T	ENSP00000314508.5:p.Asn227Ile
ENST00000368373.7:c.680A>T	ENSP00000357357.3:p.Asn227Ile
ENST00000427500.7:c.533A>T	ENSP00000402577.2:p.Asn178Ile
ENST00000428024.3:c.419A>T	ENSP00000397986.2:p.Asn140Ile
ENST00000460156.1:n.467A>T
ENST00000484489.5:n.339+1758A>T
ENST00000491081.5:n.285A>T
ENST00000493842.5:n.1018A>T
ENST00000497670.5:n.303A>T
XM_006711270.1:c.680A>T	XP_006711333.1:p.Asn227Ile
XM_011509407.1:c.680A>T	XP_011507709.1:p.Asn227Ile