Canonical Allele Identifier: CA342724310

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238587G>T , CM000663.2:g.155238587G>T	GRCh38
NC_000001.10:g.155208378G>T , CM000663.1:g.155208378G>T	GRCh37
NC_000001.9:g.153475002G>T	NCBI36
NG_009783.1:g.11111C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.518C>A MANE Select	NP_000148.2:p.Thr173Asn
ENST00000368373.8:c.518C>A MANE Select	ENSP00000357357.3:p.Thr173Asn
NM_000157.3:c.518C>A	NP_000148.2:p.Thr173Asn
NM_001005741.2:c.518C>A	NP_001005741.1:p.Thr173Asn
NM_001005741.3:c.518C>A	NP_001005741.1:p.Thr173Asn
NM_001005742.2:c.518C>A	NP_001005742.1:p.Thr173Asn
NM_001005742.3:c.518C>A	NP_001005742.1:p.Thr173Asn
NM_001171811.1:c.257C>A	NP_001165282.1:p.Thr86Asn
NM_001171811.2:c.257C>A	NP_001165282.1:p.Thr86Asn
NM_001171812.1:c.371C>A	NP_001165283.1:p.Thr124Asn
NM_001171812.2:c.371C>A	NP_001165283.1:p.Thr124Asn
ENST00000327247.9:c.518C>A	ENSP00000314508.5:p.Thr173Asn
ENST00000368373.7:c.518C>A	ENSP00000357357.3:p.Thr173Asn
ENST00000427500.7:c.371C>A	ENSP00000402577.2:p.Thr124Asn
ENST00000428024.3:c.257C>A	ENSP00000397986.2:p.Thr86Asn
ENST00000460156.1:n.305C>A
ENST00000473570.5:n.839C>A
ENST00000484489.5:n.339+1386C>A
ENST00000491081.5:n.123C>A
ENST00000493842.5:n.856C>A
ENST00000497670.5:n.141C>A
XM_006711270.1:c.518C>A	XP_006711333.1:p.Thr173Asn
XM_011509407.1:c.518C>A	XP_011507709.1:p.Thr173Asn