Canonical Allele Identifier: CA463596497

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2122938
• ClinVar RCV Id: RCV003047115
• MyVariant Identifiers: chr9:g.6595036A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595036A>G , CM000671.2:g.6595036A>G	GRCh38
NC_000009.11:g.6595036A>G , CM000671.1:g.6595036A>G	GRCh37
NC_000009.10:g.6585036A>G	NCBI36
NG_016397.1:g.55657T>C , LRG_643:g.55657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1239T>C MANE Select	ENSP00000370737.4:p.Asn413=
ENST00000638654.1:c.486T>C	ENSP00000491101.1:p.Asn162=
ENST00000639364.1:n.939T>C
ENST00000639443.1:n.807T>C
ENST00000639493.1:n.391T>C
ENST00000639954.1:n.947T>C
ENST00000640592.1:n.1122T>C
ENST00000321612.6:c.1239T>C	ENSP00000370737.3:p.Asn413=
ENST00000463305.1:n.323T>C
NM_000170.2:c.1239T>C , LRG_643t1:c.1239T>C	NP_000161.2:p.Asn413=
NM_000170.3:c.1239T>C MANE Select	NP_000161.2:p.Asn413=