Canonical Allele Identifier: CA463596393
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6595018T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595018T>G , CM000671.2:g.6595018T>G GRCh38
NC_000009.11:g.6595018T>G , CM000671.1:g.6595018T>G GRCh37
NC_000009.10:g.6585018T>G NCBI36
NG_016397.1:g.55675A>C , LRG_643:g.55675A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1257A>C MANE Select ENSP00000370737.4:p.Ser419=
ENST00000639364.1:n.957A>C
ENST00000639443.1:n.825A>C
ENST00000639493.1:n.409A>C
ENST00000639954.1:n.965A>C
ENST00000640592.1:n.1140A>C
ENST00000321612.6:c.1257A>C ENSP00000370737.3:p.Ser419=
ENST00000463305.1:n.341A>C
NM_000170.2:c.1257A>C , LRG_643t1:c.1257A>C NP_000161.2:p.Ser419=
NM_000170.3:c.1257A>C MANE Select NP_000161.2:p.Ser419=