Canonical Allele Identifier: CA2499676

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346789
• ClinVar RCV Id: RCV000278997 ; RCV000336211 ; RCV000941062 ; RCV004021930
• dbSNP Id: rs760661724
• ExAC: 3:81630356 T / C
• gnomAD v2: 3-81630356-T-C
• gnomAD v3: 3-81581205-T-C
• gnomAD v4: 3-81581205-T-C
• MyVariant Identifiers: chr3:g.81630356T>C (hg19) ; chr3:g.81581205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81581205T>C , CM000665.2:g.81581205T>C	GRCh38
NC_000003.11:g.81630356T>C , CM000665.1:g.81630356T>C	GRCh37
NC_000003.10:g.81713046T>C	NCBI36
NG_011810.1:g.185596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1406A>G MANE Select	ENSP00000410833.2:p.Tyr469Cys
ENST00000429644.6:c.1406A>G	ENSP00000410833.2:p.Tyr469Cys
ENST00000489715.1:c.1283A>G	ENSP00000419638.1:p.Tyr428Cys
NM_000158.3:c.1406A>G	NP_000149.3:p.Tyr469Cys
NM_000158.4:c.1406A>G MANE Select	NP_000149.4:p.Tyr469Cys