Canonical Allele Identifier: CA463597573
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6595117G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595117G>C , CM000671.2:g.6595117G>C GRCh38
NC_000009.11:g.6595117G>C , CM000671.1:g.6595117G>C GRCh37
NC_000009.10:g.6585117G>C NCBI36
NG_016397.1:g.55576C>G , LRG_643:g.55576C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1158C>G MANE Select ENSP00000370737.4:p.Ala386=
ENST00000638654.1:c.405C>G ENSP00000491101.1:p.Ala135=
ENST00000639364.1:n.858C>G
ENST00000639443.1:n.726C>G
ENST00000639493.1:n.310C>G
ENST00000639954.1:n.866C>G
ENST00000640592.1:n.1041C>G
ENST00000321612.6:c.1158C>G ENSP00000370737.3:p.Ala386=
ENST00000463305.1:n.242C>G
NM_000170.2:c.1158C>G , LRG_643t1:c.1158C>G NP_000161.2:p.Ala386=
NM_000170.3:c.1158C>G MANE Select NP_000161.2:p.Ala386=