Canonical Allele Identifier: CA372894289

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595058T>G (hg19) ; chr9:g.6595058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595058T>G , CM000671.2:g.6595058T>G	GRCh38
NC_000009.11:g.6595058T>G , CM000671.1:g.6595058T>G	GRCh37
NC_000009.10:g.6585058T>G	NCBI36
NG_016397.1:g.55635A>C , LRG_643:g.55635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1217A>C MANE Select	ENSP00000370737.4:p.His406Pro
ENST00000638654.1:c.464A>C	ENSP00000491101.1:p.His155Pro
ENST00000639364.1:n.917A>C
ENST00000639443.1:n.785A>C
ENST00000639493.1:n.369A>C
ENST00000639954.1:n.925A>C
ENST00000640592.1:n.1100A>C
ENST00000321612.6:c.1217A>C	ENSP00000370737.3:p.His406Pro
ENST00000463305.1:n.301A>C
NM_000170.2:c.1217A>C , LRG_643t1:c.1217A>C	NP_000161.2:p.His406Pro
NM_000170.3:c.1217A>C MANE Select	NP_000161.2:p.His406Pro