Canonical Allele Identifier: CA463585551

Gene: GLDC

Linked Data

• dbSNP Id: rs1330286916
• MyVariant Identifiers: chr9:g.6556255T>A (hg19) ; chr9:g.6556255T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556255T>A , CM000671.2:g.6556255T>A	GRCh38
NC_000009.11:g.6556255T>A , CM000671.1:g.6556255T>A	GRCh37
NC_000009.10:g.6546255T>A	NCBI36
NG_016397.1:g.94438A>T , LRG_643:g.94438A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2100A>T MANE Select	ENSP00000370737.4:p.Pro700=
ENST00000638233.1:n.535A>T
ENST00000638661.1:c.300A>T	ENSP00000491369.1:p.Pro100=
ENST00000638694.1:n.287A>T
ENST00000639318.1:c.300A>T	ENSP00000491932.1:p.Pro100=
ENST00000639364.1:n.1800A>T
ENST00000639443.1:n.1668A>T
ENST00000639954.1:n.1808A>T
ENST00000640505.1:n.339A>T
ENST00000321612.6:c.2100A>T	ENSP00000370737.3:p.Pro700=
NM_000170.2:c.2100A>T , LRG_643t1:c.2100A>T	NP_000161.2:p.Pro700=
NM_000170.3:c.2100A>T MANE Select	NP_000161.2:p.Pro700=