Canonical Allele Identifier: CA2689362384
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6595010-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595010T>C , CM000671.2:g.6595010T>C GRCh38
NC_000009.11:g.6595010T>C , CM000671.1:g.6595010T>C GRCh37
NC_000009.10:g.6585010T>C NCBI36
NG_016397.1:g.55683A>G , LRG_643:g.55683A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1261+4A>G MANE Select ENSP00000370737.4:n.1261+4A>G
ENST00000639364.1:n.961+4A>G
ENST00000639443.1:n.829+4A>G
ENST00000639493.1:n.413+4A>G
ENST00000639954.1:n.969+4A>G
ENST00000640592.1:n.1144+4A>G
ENST00000321612.6:c.1261+4A>G ENSP00000370737.3:n.1261+4A>G
ENST00000463305.1:n.345+4A>G
NM_000170.2:c.1261+4A>G , LRG_643t1:c.1261+4A>G NP_000161.2:n.1261+4A>G
NM_000170.3:c.1261+4A>G MANE Select NP_000161.2:n.1261+4A>G