Canonical Allele Identifier: CA372881841

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558578-G-C
• MyVariant Identifiers: chr9:g.6558578G>C (hg19) ; chr9:g.6558578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558578G>C , CM000671.2:g.6558578G>C	GRCh38
NC_000009.11:g.6558578G>C , CM000671.1:g.6558578G>C	GRCh37
NC_000009.10:g.6548578G>C	NCBI36
NG_016397.1:g.92115C>G , LRG_643:g.92115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2033C>G MANE Select	ENSP00000370737.4:p.Ala678Gly
ENST00000460457.2:n.193C>G
ENST00000638233.1:n.468C>G
ENST00000638661.1:c.233C>G	ENSP00000491369.1:p.Ala78Gly
ENST00000638694.1:n.220C>G
ENST00000639318.1:c.233C>G	ENSP00000491932.1:p.Ala78Gly
ENST00000639364.1:n.1733C>G
ENST00000639443.1:n.1601C>G
ENST00000639954.1:n.1741C>G
ENST00000640208.1:c.233C>G	ENSP00000491895.1:p.Ala78Gly
ENST00000640505.1:n.272C>G
ENST00000640592.1:n.1916C>G
ENST00000321612.6:c.2033C>G	ENSP00000370737.3:p.Ala678Gly
ENST00000460457.1:n.172C>G
NM_000170.2:c.2033C>G , LRG_643t1:c.2033C>G	NP_000161.2:p.Ala678Gly
NM_000170.3:c.2033C>G MANE Select	NP_000161.2:p.Ala678Gly