Canonical Allele Identifier: CA241296

Gene: GBE1

Linked Data

• ClinVar Variation Id: 195023
• ClinVar RCV Id: RCV000175535 ; RCV001469389 ; RCV004020080
• dbSNP Id: rs544821452
• ExAC: 3:81754738 T / C
• gnomAD v2: 3-81754738-T-C
• gnomAD v3: 3-81705587-T-C
• gnomAD v4: 3-81705587-T-C
• MyVariant Identifiers: chr3:g.81754738T>C (hg19) ; chr3:g.81705587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705587T>C , CM000665.2:g.81705587T>C	GRCh38
NC_000003.11:g.81754738T>C , CM000665.1:g.81754738T>C	GRCh37
NC_000003.10:g.81837428T>C	NCBI36
NG_011810.1:g.61214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.170A>G MANE Select	ENSP00000410833.2:p.Lys57Arg
ENST00000429644.6:c.170A>G	ENSP00000410833.2:p.Lys57Arg
ENST00000489715.1:c.47A>G	ENSP00000419638.1:p.Lys16Arg
NM_000158.3:c.170A>G	NP_000149.3:p.Lys57Arg
NM_000158.4:c.170A>G MANE Select	NP_000149.4:p.Lys57Arg