Canonical Allele Identifier: CA2500024

Gene: GBE1

Linked Data

• ClinVar Variation Id: 1308328
• ClinVar RCV Id: RCV001763240 ; RCV002544048
• dbSNP Id: rs200746350
• ExAC: 3:81754630 G / A
• gnomAD v2: 3-81754630-G-A
• gnomAD v3: 3-81705479-G-A
• gnomAD v4: 3-81705479-G-A
• MyVariant Identifiers: chr3:g.81754630G>A (hg19) ; chr3:g.81705479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705479G>A , CM000665.2:g.81705479G>A	GRCh38
NC_000003.11:g.81754630G>A , CM000665.1:g.81754630G>A	GRCh37
NC_000003.10:g.81837320G>A	NCBI36
NG_011810.1:g.61322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.278C>T MANE Select	ENSP00000410833.2:p.Pro93Leu
ENST00000429644.6:c.278C>T	ENSP00000410833.2:p.Pro93Leu
ENST00000489715.1:c.155C>T	ENSP00000419638.1:p.Pro52Leu
NM_000158.3:c.278C>T	NP_000149.3:p.Pro93Leu
NM_000158.4:c.278C>T MANE Select	NP_000149.4:p.Pro93Leu