Canonical Allele Identifier: CA1141729

Gene: GBA1

Linked Data

• ClinVar Variation Id: 813341
• ClinVar RCV Id: RCV001004134 ; RCV002282424
• dbSNP Id: rs80356763
• ExAC: 1:155208387 C / T
• gnomAD v2: 1-155208387-C-T
• gnomAD v4: 1-155238596-C-T
• MyVariant Identifiers: chr1:g.155208387C>T (hg19) ; chr1:g.155238596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238596C>T , CM000663.2:g.155238596C>T	GRCh38
NC_000001.10:g.155208387C>T , CM000663.1:g.155208387C>T	GRCh37
NC_000001.9:g.153475011C>T	NCBI36
NG_009783.1:g.11102G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.509G>A MANE Select	ENSP00000357357.3:p.Arg170His
ENST00000327247.9:c.509G>A	ENSP00000314508.5:p.Arg170His
ENST00000368373.7:c.509G>A	ENSP00000357357.3:p.Arg170His
ENST00000427500.7:c.362G>A	ENSP00000402577.2:p.Arg121His
ENST00000428024.3:c.248G>A	ENSP00000397986.2:p.Arg83His
ENST00000460156.1:n.296G>A
ENST00000473570.5:n.830G>A
ENST00000484489.5:n.339+1377G>A
ENST00000491081.5:n.114G>A
ENST00000493842.5:n.847G>A
ENST00000497670.5:n.132G>A
NM_000157.3:c.509G>A	NP_000148.2:p.Arg170His
NM_001005741.2:c.509G>A	NP_001005741.1:p.Arg170His
NM_001005742.2:c.509G>A	NP_001005742.1:p.Arg170His
NM_001171811.1:c.248G>A	NP_001165282.1:p.Arg83His
NM_001171812.1:c.362G>A	NP_001165283.1:p.Arg121His
XM_006711270.1:c.509G>A	XP_006711333.1:p.Arg170His
XM_011509407.1:c.509G>A	XP_011507709.1:p.Arg170His
NM_000157.4:c.509G>A MANE Select	NP_000148.2:p.Arg170His
NM_001005741.3:c.509G>A	NP_001005741.1:p.Arg170His
NM_001005742.3:c.509G>A	NP_001005742.1:p.Arg170His
NM_001171811.2:c.248G>A	NP_001165282.1:p.Arg83His
NM_001171812.2:c.362G>A	NP_001165283.1:p.Arg121His