Canonical Allele Identifier: CA372894412

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595118G>C (hg19) ; chr9:g.6595118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595118G>C , CM000671.2:g.6595118G>C	GRCh38
NC_000009.11:g.6595118G>C , CM000671.1:g.6595118G>C	GRCh37
NC_000009.10:g.6585118G>C	NCBI36
NG_016397.1:g.55575C>G , LRG_643:g.55575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1157C>G MANE Select	ENSP00000370737.4:p.Ala386Gly
ENST00000638654.1:c.404C>G	ENSP00000491101.1:p.Ala135Gly
ENST00000639364.1:n.857C>G
ENST00000639443.1:n.725C>G
ENST00000639493.1:n.309C>G
ENST00000639954.1:n.865C>G
ENST00000640592.1:n.1040C>G
ENST00000321612.6:c.1157C>G	ENSP00000370737.3:p.Ala386Gly
ENST00000463305.1:n.241C>G
NM_000170.2:c.1157C>G , LRG_643t1:c.1157C>G	NP_000161.2:p.Ala386Gly
NM_000170.3:c.1157C>G MANE Select	NP_000161.2:p.Ala386Gly