Canonical Allele Identifier: CA2689362410

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595176-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595176G>A , CM000671.2:g.6595176G>A	GRCh38
NC_000009.11:g.6595176G>A , CM000671.1:g.6595176G>A	GRCh37
NC_000009.10:g.6585176G>A	NCBI36
NG_016397.1:g.55517C>T , LRG_643:g.55517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1156-57C>T MANE Select	ENSP00000370737.4:n.1156-57C>T
ENST00000638654.1:c.403-57C>T	ENSP00000491101.1:n.403-57C>T
ENST00000639364.1:n.856-57C>T
ENST00000639443.1:n.724-57C>T
ENST00000639493.1:n.308-57C>T
ENST00000639954.1:n.864-57C>T
ENST00000640592.1:n.1039-57C>T
ENST00000321612.6:c.1156-57C>T	ENSP00000370737.3:n.1156-57C>T
ENST00000463305.1:n.240-57C>T
NM_000170.2:c.1156-57C>T , LRG_643t1:c.1156-57C>T	NP_000161.2:n.1156-57C>T
NM_000170.3:c.1156-57C>T MANE Select	NP_000161.2:n.1156-57C>T