Canonical Allele Identifier: CA372881364

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6556250G>C (hg19) ; chr9:g.6556250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556250G>C , CM000671.2:g.6556250G>C	GRCh38
NC_000009.11:g.6556250G>C , CM000671.1:g.6556250G>C	GRCh37
NC_000009.10:g.6546250G>C	NCBI36
NG_016397.1:g.94443C>G , LRG_643:g.94443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2105C>G MANE Select	ENSP00000370737.4:p.Thr702Ser
ENST00000638233.1:n.540C>G
ENST00000638661.1:c.305C>G	ENSP00000491369.1:p.Thr102Ser
ENST00000638694.1:n.292C>G
ENST00000639318.1:c.305C>G	ENSP00000491932.1:p.Thr102Ser
ENST00000639364.1:n.1805C>G
ENST00000639443.1:n.1673C>G
ENST00000639954.1:n.1813C>G
ENST00000640505.1:n.344C>G
ENST00000321612.6:c.2105C>G	ENSP00000370737.3:p.Thr702Ser
NM_000170.2:c.2105C>G , LRG_643t1:c.2105C>G	NP_000161.2:p.Thr702Ser
NM_000170.3:c.2105C>G MANE Select	NP_000161.2:p.Thr702Ser