Canonical Allele Identifier: CA434493963
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81695584G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646433G>C , CM000665.2:g.81646433G>C GRCh38
NC_000003.11:g.81695584G>C , CM000665.1:g.81695584G>C GRCh37
NC_000003.10:g.81778274G>C NCBI36
NG_011810.1:g.120368C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.741C>G MANE Select ENSP00000410833.2:p.Ala247=
ENST00000429644.6:c.741C>G ENSP00000410833.2:p.Ala247=
ENST00000489715.1:c.618C>G ENSP00000419638.1:p.Ala206=
ENST00000498468.1:n.291C>G
NM_000158.3:c.741C>G NP_000149.3:p.Ala247=
NM_000158.4:c.741C>G MANE Select NP_000149.4:p.Ala247=
Search 100 bp 5'
Search 100 bp 3'