Canonical Allele Identifier: CA78298510
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs76807363
gnomAD v4: 3-81705478-C-A
MyVariant Identifiers: chr3:g.81754629C>A (hg19) chr3:g.81705478C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705478C>A , CM000665.2:g.81705478C>A GRCh38
NC_000003.11:g.81754629C>A , CM000665.1:g.81754629C>A GRCh37
NC_000003.10:g.81837319C>A NCBI36
NG_011810.1:g.61323G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.279G>T MANE Select ENSP00000410833.2:p.Pro93=
ENST00000429644.6:c.279G>T ENSP00000410833.2:p.Pro93=
ENST00000489715.1:c.156G>T ENSP00000419638.1:p.Pro52=
NM_000158.3:c.279G>T NP_000149.3:p.Pro93=
NM_000158.4:c.279G>T MANE Select NP_000149.4:p.Pro93=
Search 100 bp 5'
Search 100 bp 3'