Canonical Allele Identifier: CA372894207

Gene: GLDC

Linked Data

• dbSNP Id: rs1227030484
• gnomAD v4: 9-6595019-G-A
• MyVariant Identifiers: chr9:g.6595019G>A (hg19) ; chr9:g.6595019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595019G>A , CM000671.2:g.6595019G>A	GRCh38
NC_000009.11:g.6595019G>A , CM000671.1:g.6595019G>A	GRCh37
NC_000009.10:g.6585019G>A	NCBI36
NG_016397.1:g.55674C>T , LRG_643:g.55674C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1256C>T MANE Select	ENSP00000370737.4:p.Ser419Leu
ENST00000639364.1:n.956C>T
ENST00000639443.1:n.824C>T
ENST00000639493.1:n.408C>T
ENST00000639954.1:n.964C>T
ENST00000640592.1:n.1139C>T
ENST00000321612.6:c.1256C>T	ENSP00000370737.3:p.Ser419Leu
ENST00000463305.1:n.340C>T
NM_000170.2:c.1256C>T , LRG_643t1:c.1256C>T	NP_000161.2:p.Ser419Leu
NM_000170.3:c.1256C>T MANE Select	NP_000161.2:p.Ser419Leu