Canonical Allele Identifier: CA2689358926
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6565275-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6565275A>G , CM000671.2:g.6565275A>G GRCh38
NC_000009.11:g.6565275A>G , CM000671.1:g.6565275A>G GRCh37
NC_000009.10:g.6555275A>G NCBI36
NG_016397.1:g.85418T>C , LRG_643:g.85418T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1926+79T>C MANE Select ENSP00000370737.4:n.1926+79T>C
ENST00000460457.2:n.86+79T>C
ENST00000638233.1:n.361+79T>C
ENST00000638661.1:c.126+79T>C ENSP00000491369.1:n.126+79T>C
ENST00000638694.1:n.113+79T>C
ENST00000639318.1:c.126+79T>C ENSP00000491932.1:n.126+79T>C
ENST00000639364.1:n.1626+79T>C
ENST00000639443.1:n.1494+79T>C
ENST00000639954.1:n.1634+79T>C
ENST00000640208.1:c.126+79T>C ENSP00000491895.1:n.126+79T>C
ENST00000640505.1:n.165+79T>C
ENST00000640592.1:n.1809+79T>C
ENST00000321612.6:c.1926+79T>C ENSP00000370737.3:n.1926+79T>C
ENST00000460457.1:n.65+79T>C
NM_000170.2:c.1926+79T>C , LRG_643t1:c.1926+79T>C NP_000161.2:n.1926+79T>C
NM_000170.3:c.1926+79T>C MANE Select NP_000161.2:n.1926+79T>C