Canonical Allele Identifier: CA865905285
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1297800849
gnomAD v3: 9-6558798-T-G
gnomAD v4: 9-6558798-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558798T>G , CM000671.2:g.6558798T>G GRCh38
NC_000009.11:g.6558798T>G , CM000671.1:g.6558798T>G GRCh37
NC_000009.10:g.6548798T>G NCBI36
NG_016397.1:g.91895A>C , LRG_643:g.91895A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1927-114A>C MANE Select ENSP00000370737.4:n.1927-114A>C
ENST00000460457.2:n.87-114A>C
ENST00000638233.1:n.362-114A>C
ENST00000638661.1:c.127-114A>C ENSP00000491369.1:n.127-114A>C
ENST00000638694.1:n.114-114A>C
ENST00000639318.1:c.127-114A>C ENSP00000491932.1:n.127-114A>C
ENST00000639364.1:n.1627-114A>C
ENST00000639443.1:n.1495-114A>C
ENST00000639954.1:n.1635-114A>C
ENST00000640208.1:c.127-114A>C ENSP00000491895.1:n.127-114A>C
ENST00000640505.1:n.166-114A>C
ENST00000640592.1:n.1810-114A>C
ENST00000321612.6:c.1927-114A>C ENSP00000370737.3:n.1927-114A>C
ENST00000460457.1:n.66-114A>C
NM_000170.2:c.1927-114A>C , LRG_643t1:c.1927-114A>C NP_000161.2:n.1927-114A>C
NM_000170.3:c.1927-114A>C MANE Select NP_000161.2:n.1927-114A>C