Canonical Allele Identifier: CA1120883551

Gene: GLDC

Linked Data

• dbSNP Id: rs1817635015
• gnomAD v3: 9-6556541-C-A
• gnomAD v4: 9-6556541-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556541C>A , CM000671.2:g.6556541C>A	GRCh38
NC_000009.11:g.6556541C>A , CM000671.1:g.6556541C>A	GRCh37
NC_000009.10:g.6546541C>A	NCBI36
NG_016397.1:g.94152G>T , LRG_643:g.94152G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-239G>T MANE Select	ENSP00000370737.4:n.2053-239G>T
ENST00000638233.1:n.488-239G>T
ENST00000638661.1:c.253-239G>T	ENSP00000491369.1:n.253-239G>T
ENST00000638694.1:n.240-239G>T
ENST00000639318.1:c.253-239G>T	ENSP00000491932.1:n.253-239G>T
ENST00000639364.1:n.1753-239G>T
ENST00000639443.1:n.1621-239G>T
ENST00000639954.1:n.1761-239G>T
ENST00000640505.1:n.292-239G>T
ENST00000321612.6:c.2053-239G>T	ENSP00000370737.3:n.2053-239G>T
NM_000170.2:c.2053-239G>T , LRG_643t1:c.2053-239G>T	NP_000161.2:n.2053-239G>T
NM_000170.3:c.2053-239G>T MANE Select	NP_000161.2:n.2053-239G>T