Canonical Allele Identifier: CA358332

Gene: GBA1

Linked Data

• ClinVar Variation Id: 225285
• ClinVar RCV Id: RCV000210895 ; RCV001580471 ; RCV002271465
• dbSNP Id: rs147411159
• ExAC: 1:155208422 G / A
• gnomAD v2: 1-155208422-G-A
• gnomAD v3: 1-155238631-G-A
• gnomAD v4: 1-155238631-G-A
• MyVariant Identifiers: chr1:g.155208422G>A (hg19) ; chr1:g.155238631G>A (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238631G>A , CM000663.2:g.155238631G>A	GRCh38
NC_000001.10:g.155208422G>A , CM000663.1:g.155208422G>A	GRCh37
NC_000001.9:g.153475046G>A	NCBI36
NG_009783.1:g.11067C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.474C>T MANE Select	ENSP00000357357.3:p.Ile158=
ENST00000327247.9:c.474C>T	ENSP00000314508.5:p.Ile158=
ENST00000368373.7:c.474C>T	ENSP00000357357.3:p.Ile158=
ENST00000427500.7:c.327C>T	ENSP00000402577.2:p.Ile109=
ENST00000428024.3:c.213C>T	ENSP00000397986.2:p.Ile71=
ENST00000460156.1:n.261C>T
ENST00000473570.5:n.795C>T
ENST00000484489.5:n.339+1342C>T
ENST00000491081.5:n.79C>T
ENST00000493842.5:n.812C>T
ENST00000497670.5:n.97C>T
NM_000157.3:c.474C>T	NP_000148.2:p.Ile158=
NM_001005741.2:c.474C>T	NP_001005741.1:p.Ile158=
NM_001005742.2:c.474C>T	NP_001005742.1:p.Ile158=
NM_001171811.1:c.213C>T	NP_001165282.1:p.Ile71=
NM_001171812.1:c.327C>T	NP_001165283.1:p.Ile109=
XM_006711270.1:c.474C>T	XP_006711333.1:p.Ile158=
XM_011509407.1:c.474C>T	XP_011507709.1:p.Ile158=
NM_000157.4:c.474C>T MANE Select	NP_000148.2:p.Ile158=
NM_001005741.3:c.474C>T	NP_001005741.1:p.Ile158=
NM_001005742.3:c.474C>T	NP_001005742.1:p.Ile158=
NM_001171811.2:c.213C>T	NP_001165282.1:p.Ile71=
NM_001171812.2:c.327C>T	NP_001165283.1:p.Ile109=