Canonical Allele Identifier: CA372881262
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1284042082
gnomAD v2: 9-6556202-T-C
gnomAD v4: 9-6556202-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556202T>C , CM000671.2:g.6556202T>C GRCh38
NC_000009.11:g.6556202T>C , CM000671.1:g.6556202T>C GRCh37
NC_000009.10:g.6546202T>C NCBI36
NG_016397.1:g.94491A>G , LRG_643:g.94491A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2153A>G MANE Select ENSP00000370737.4:p.His718Arg
ENST00000638233.1:n.588A>G
ENST00000638661.1:c.353A>G ENSP00000491369.1:p.His118Arg
ENST00000638694.1:n.340A>G
ENST00000639318.1:c.353A>G ENSP00000491932.1:p.His118Arg
ENST00000639364.1:n.1853A>G
ENST00000639443.1:n.1721A>G
ENST00000639954.1:n.1861A>G
ENST00000640505.1:n.392A>G
ENST00000321612.6:c.2153A>G ENSP00000370737.3:p.His718Arg
NM_000170.2:c.2153A>G , LRG_643t1:c.2153A>G NP_000161.2:p.His718Arg
NM_000170.3:c.2153A>G MANE Select NP_000161.2:p.His718Arg