Canonical Allele Identifier: CA4980404
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 235561
dbSNP Id: rs140877566
gnomAD v2: 9-6556307-G-C
gnomAD v3: 9-6556307-G-C
gnomAD v4: 9-6556307-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556307G>C , CM000671.2:g.6556307G>C GRCh38
NC_000009.11:g.6556307G>C , CM000671.1:g.6556307G>C GRCh37
NC_000009.10:g.6546307G>C NCBI36
NG_016397.1:g.94386C>G , LRG_643:g.94386C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2053-5C>G MANE Select ENSP00000370737.4:n.2053-5C>G
ENST00000638233.1:n.488-5C>G
ENST00000638661.1:c.253-5C>G ENSP00000491369.1:n.253-5C>G
ENST00000638694.1:n.240-5C>G
ENST00000639318.1:c.253-5C>G ENSP00000491932.1:n.253-5C>G
ENST00000639364.1:n.1753-5C>G
ENST00000639443.1:n.1621-5C>G
ENST00000639954.1:n.1761-5C>G
ENST00000640505.1:n.292-5C>G
ENST00000321612.6:c.2053-5C>G ENSP00000370737.3:n.2053-5C>G
NM_000170.2:c.2053-5C>G , LRG_643t1:c.2053-5C>G NP_000161.2:n.2053-5C>G
NM_000170.3:c.2053-5C>G MANE Select NP_000161.2:n.2053-5C>G