Canonical Allele Identifier: CA372894213

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595021C>A (hg19) ; chr9:g.6595021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595021C>A , CM000671.2:g.6595021C>A	GRCh38
NC_000009.11:g.6595021C>A , CM000671.1:g.6595021C>A	GRCh37
NC_000009.10:g.6585021C>A	NCBI36
NG_016397.1:g.55672G>T , LRG_643:g.55672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1254G>T MANE Select	ENSP00000370737.4:p.Leu418Phe
ENST00000639364.1:n.954G>T
ENST00000639443.1:n.822G>T
ENST00000639493.1:n.406G>T
ENST00000639954.1:n.962G>T
ENST00000640592.1:n.1137G>T
ENST00000321612.6:c.1254G>T	ENSP00000370737.3:p.Leu418Phe
ENST00000463305.1:n.338G>T
NM_000170.2:c.1254G>T , LRG_643t1:c.1254G>T	NP_000161.2:p.Leu418Phe
NM_000170.3:c.1254G>T MANE Select	NP_000161.2:p.Leu418Phe