Canonical Allele Identifier: CA2689355475

Gene: GLDC

Linked Data

• gnomAD v4: 9-6534701-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6534701A>T , CM000671.2:g.6534701A>T	GRCh38
NC_000009.11:g.6534701A>T , CM000671.1:g.6534701A>T	GRCh37
NC_000009.10:g.6524701A>T	NCBI36
NG_016397.1:g.115992T>A , LRG_643:g.115992T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2919+7T>A MANE Select	ENSP00000370737.4:n.2919+7T>A
ENST00000638233.1:n.1354+7T>A
ENST00000638274.1:c.71+7T>A
ENST00000638661.1:c.1119+7T>A	ENSP00000491369.1:n.1119+7T>A
ENST00000638694.1:n.1106+7T>A
ENST00000639318.1:c.1023+7T>A	ENSP00000491932.1:n.1023+7T>A
ENST00000639364.1:n.2619+7T>A
ENST00000639443.1:n.2487+7T>A
ENST00000639461.1:n.2020+7T>A
ENST00000639639.1:c.621+7T>A	ENSP00000491312.1:n.621+7T>A
ENST00000639954.1:n.2627+7T>A
ENST00000640505.1:n.1158+7T>A
ENST00000321612.6:c.2919+7T>A	ENSP00000370737.3:n.2919+7T>A
ENST00000477960.1:n.500+7T>A
NM_000170.2:c.2919+7T>A , LRG_643t1:c.2919+7T>A	NP_000161.2:n.2919+7T>A
NM_000170.3:c.2919+7T>A MANE Select	NP_000161.2:n.2919+7T>A