Canonical Allele Identifier: CA342710805

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235197G>C , CM000663.2:g.155235197G>C	GRCh38
NC_000001.10:g.155204988G>C , CM000663.1:g.155204988G>C	GRCh37
NC_000001.9:g.153471612G>C	NCBI36
NG_009783.1:g.14501C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.1503C>G MANE Select	NP_000148.2:p.Asn501Lys
ENST00000368373.8:c.1503C>G MANE Select	ENSP00000357357.3:p.Asn501Lys
NM_000157.3:c.1503C>G	NP_000148.2:p.Asn501Lys
NM_001005741.2:c.1503C>G	NP_001005741.1:p.Asn501Lys
NM_001005741.3:c.1503C>G	NP_001005741.1:p.Asn501Lys
NM_001005742.2:c.1503C>G	NP_001005742.1:p.Asn501Lys
NM_001005742.3:c.1503C>G	NP_001005742.1:p.Asn501Lys
NM_001171811.1:c.1242C>G	NP_001165282.1:p.Asn414Lys
NM_001171811.2:c.1242C>G	NP_001165282.1:p.Asn414Lys
NM_001171812.1:c.1356C>G	NP_001165283.1:p.Asn452Lys
NM_001171812.2:c.1356C>G	NP_001165283.1:p.Asn452Lys
ENST00000327247.9:c.1503C>G	ENSP00000314508.5:p.Asn501Lys
ENST00000368373.7:c.1503C>G	ENSP00000357357.3:p.Asn501Lys
ENST00000427500.7:c.1356C>G	ENSP00000402577.2:p.Asn452Lys
ENST00000428024.3:c.1242C>G	ENSP00000397986.2:p.Asn414Lys
ENST00000464536.1:n.191-376C>G
ENST00000478472.1:n.863C>G
ENST00000484489.5:n.662C>G
XM_006711270.1:c.1503C>G	XP_006711333.1:p.Asn501Lys
XM_011509407.1:c.1503C>G	XP_011507709.1:p.Asn501Lys