Canonical Allele Identifier: CA434493939
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81695545G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646394G>C , CM000665.2:g.81646394G>C GRCh38
NC_000003.11:g.81695545G>C , CM000665.1:g.81695545G>C GRCh37
NC_000003.10:g.81778235G>C NCBI36
NG_011810.1:g.120407C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.780C>G MANE Select ENSP00000410833.2:p.Ser260=
ENST00000429644.6:c.780C>G ENSP00000410833.2:p.Ser260=
ENST00000489715.1:c.657C>G ENSP00000419638.1:p.Ser219=
ENST00000498468.1:n.330C>G
NM_000158.3:c.780C>G NP_000149.3:p.Ser260=
NM_000158.4:c.780C>G MANE Select NP_000149.4:p.Ser260=
Search 100 bp 5'
Search 100 bp 3'