Canonical Allele Identifier: CA1141736

Gene: GBA1

Linked Data

• dbSNP Id: rs77019233
• ExAC: 1:155208428 G / A
• gnomAD v2: 1-155208428-G-A
• gnomAD v4: 1-155238637-G-A
• MyVariant Identifiers: chr1:g.155208428G>A (hg19) ; chr1:g.155238637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238637G>A , CM000663.2:g.155238637G>A	GRCh38
NC_000001.10:g.155208428G>A , CM000663.1:g.155208428G>A	GRCh37
NC_000001.9:g.153475052G>A	NCBI36
NG_009783.1:g.11061C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.468C>T MANE Select	ENSP00000357357.3:p.Asn156=
ENST00000327247.9:c.468C>T	ENSP00000314508.5:p.Asn156=
ENST00000368373.7:c.468C>T	ENSP00000357357.3:p.Asn156=
ENST00000427500.7:c.321C>T	ENSP00000402577.2:p.Asn107=
ENST00000428024.3:c.207C>T	ENSP00000397986.2:p.Asn69=
ENST00000460156.1:n.255C>T
ENST00000473570.5:n.789C>T
ENST00000484489.5:n.339+1336C>T
ENST00000491081.5:n.73C>T
ENST00000493842.5:n.806C>T
ENST00000497670.5:n.91C>T
NM_000157.3:c.468C>T	NP_000148.2:p.Asn156=
NM_001005741.2:c.468C>T	NP_001005741.1:p.Asn156=
NM_001005742.2:c.468C>T	NP_001005742.1:p.Asn156=
NM_001171811.1:c.207C>T	NP_001165282.1:p.Asn69=
NM_001171812.1:c.321C>T	NP_001165283.1:p.Asn107=
XM_006711270.1:c.468C>T	XP_006711333.1:p.Asn156=
XM_011509407.1:c.468C>T	XP_011507709.1:p.Asn156=
NM_000157.4:c.468C>T MANE Select	NP_000148.2:p.Asn156=
NM_001005741.3:c.468C>T	NP_001005741.1:p.Asn156=
NM_001005742.3:c.468C>T	NP_001005742.1:p.Asn156=
NM_001171811.2:c.207C>T	NP_001165282.1:p.Asn69=
NM_001171812.2:c.321C>T	NP_001165283.1:p.Asn107=