Canonical Allele Identifier: CA865901915
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1444485591
gnomAD v3: 9-6555829-C-T
gnomAD v4: 9-6555829-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555829C>T , CM000671.2:g.6555829C>T GRCh38
NC_000009.11:g.6555829C>T , CM000671.1:g.6555829C>T GRCh37
NC_000009.10:g.6545829C>T NCBI36
NG_016397.1:g.94864G>A , LRG_643:g.94864G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+324G>A MANE Select ENSP00000370737.4:n.2202+324G>A
ENST00000638233.1:n.637+324G>A
ENST00000638661.1:c.402+324G>A ENSP00000491369.1:n.402+324G>A
ENST00000638694.1:n.389+324G>A
ENST00000639318.1:c.402+324G>A ENSP00000491932.1:n.402+324G>A
ENST00000639364.1:n.1902+324G>A
ENST00000639443.1:n.1770+324G>A
ENST00000639954.1:n.1910+324G>A
ENST00000640505.1:n.441+324G>A
ENST00000321612.6:c.2202+324G>A ENSP00000370737.3:n.2202+324G>A
NM_000170.2:c.2202+324G>A , LRG_643t1:c.2202+324G>A NP_000161.2:n.2202+324G>A
NM_000170.3:c.2202+324G>A MANE Select NP_000161.2:n.2202+324G>A