Canonical Allele Identifier: CA414410245
Gene: GLUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048418G>C , CM000685.2:g.121048418G>C GRCh38
NC_000023.10:g.120182272G>C , CM000685.1:g.120182272G>C GRCh37
NC_000023.9:g.120009953G>C NCBI36
NG_016456.1:g.5811G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.734G>C MANE Select ENSP00000327589.1:p.Gly245Ala
ENST00000328078.2:c.734G>C ENSP00000327589.1:p.Gly245Ala
NM_012084.3:c.734G>C NP_036216.2:p.Gly245Ala
NM_012084.4:c.734G>C MANE Select NP_036216.2:p.Gly245Ala