Canonical Allele Identifier: CA1120883530

Gene: GLDC

Linked Data

• dbSNP Id: rs1187676718
• gnomAD v3: 9-6556419-C-A
• gnomAD v4: 9-6556419-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556419C>A , CM000671.2:g.6556419C>A	GRCh38
NC_000009.11:g.6556419C>A , CM000671.1:g.6556419C>A	GRCh37
NC_000009.10:g.6546419C>A	NCBI36
NG_016397.1:g.94274G>T , LRG_643:g.94274G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-117G>T MANE Select	ENSP00000370737.4:n.2053-117G>T
ENST00000638233.1:n.488-117G>T
ENST00000638661.1:c.253-117G>T	ENSP00000491369.1:n.253-117G>T
ENST00000638694.1:n.240-117G>T
ENST00000639318.1:c.253-117G>T	ENSP00000491932.1:n.253-117G>T
ENST00000639364.1:n.1753-117G>T
ENST00000639443.1:n.1621-117G>T
ENST00000639954.1:n.1761-117G>T
ENST00000640505.1:n.292-117G>T
ENST00000321612.6:c.2053-117G>T	ENSP00000370737.3:n.2053-117G>T
NM_000170.2:c.2053-117G>T , LRG_643t1:c.2053-117G>T	NP_000161.2:n.2053-117G>T
NM_000170.3:c.2053-117G>T MANE Select	NP_000161.2:n.2053-117G>T