Canonical Allele Identifier: CA2689358809

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558540-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558540C>T , CM000671.2:g.6558540C>T	GRCh38
NC_000009.11:g.6558540C>T , CM000671.1:g.6558540C>T	GRCh37
NC_000009.10:g.6548540C>T	NCBI36
NG_016397.1:g.92153G>A , LRG_643:g.92153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+19G>A MANE Select	ENSP00000370737.4:n.2052+19G>A
ENST00000460457.2:n.212+19G>A
ENST00000638233.1:n.487+19G>A
ENST00000638661.1:c.252+19G>A	ENSP00000491369.1:n.252+19G>A
ENST00000638694.1:n.239+19G>A
ENST00000639318.1:c.252+19G>A	ENSP00000491932.1:n.252+19G>A
ENST00000639364.1:n.1752+19G>A
ENST00000639443.1:n.1620+19G>A
ENST00000639954.1:n.1760+19G>A
ENST00000640208.1:c.271G>A	ENSP00000491895.1:p.Ala91Thr
ENST00000640505.1:n.291+19G>A
ENST00000640592.1:n.1954G>A
ENST00000321612.6:c.2052+19G>A	ENSP00000370737.3:n.2052+19G>A
ENST00000460457.1:n.210G>A
NM_000170.2:c.2052+19G>A , LRG_643t1:c.2052+19G>A	NP_000161.2:n.2052+19G>A
NM_000170.3:c.2052+19G>A MANE Select	NP_000161.2:n.2052+19G>A