Canonical Allele Identifier: CA463595275

Gene: GLDC

Linked Data

• gnomAD v4: 9-6592986-G-C
• MyVariant Identifiers: chr9:g.6592986G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6592986G>C , CM000671.2:g.6592986G>C	GRCh38
NC_000009.11:g.6592986G>C , CM000671.1:g.6592986G>C	GRCh37
NC_000009.10:g.6582986G>C	NCBI36
NG_016397.1:g.57707C>G , LRG_643:g.57707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1266C>G MANE Select	ENSP00000370737.4:p.Leu422=
ENST00000639364.1:n.966C>G
ENST00000639443.1:n.834C>G
ENST00000639493.1:n.418C>G
ENST00000639954.1:n.974C>G
ENST00000640592.1:n.1149C>G
ENST00000640703.1:n.109C>G
ENST00000321612.6:c.1266C>G	ENSP00000370737.3:p.Leu422=
ENST00000463305.1:n.350C>G
NM_000170.2:c.1266C>G , LRG_643t1:c.1266C>G	NP_000161.2:p.Leu422=
NM_000170.3:c.1266C>G MANE Select	NP_000161.2:p.Leu422=