Canonical Allele Identifier: CA188651021
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs890015060
gnomAD v3: 9-6556366-C-G
gnomAD v4: 9-6556366-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556366C>G , CM000671.2:g.6556366C>G GRCh38
NC_000009.11:g.6556366C>G , CM000671.1:g.6556366C>G GRCh37
NC_000009.10:g.6546366C>G NCBI36
NG_016397.1:g.94327G>C , LRG_643:g.94327G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2053-64G>C MANE Select ENSP00000370737.4:n.2053-64G>C
ENST00000638233.1:n.488-64G>C
ENST00000638661.1:c.253-64G>C ENSP00000491369.1:n.253-64G>C
ENST00000638694.1:n.240-64G>C
ENST00000639318.1:c.253-64G>C ENSP00000491932.1:n.253-64G>C
ENST00000639364.1:n.1753-64G>C
ENST00000639443.1:n.1621-64G>C
ENST00000639954.1:n.1761-64G>C
ENST00000640505.1:n.292-64G>C
ENST00000321612.6:c.2053-64G>C ENSP00000370737.3:n.2053-64G>C
NM_000170.2:c.2053-64G>C , LRG_643t1:c.2053-64G>C NP_000161.2:n.2053-64G>C
NM_000170.3:c.2053-64G>C MANE Select NP_000161.2:n.2053-64G>C