Canonical Allele Identifier: CA463585568
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6556288C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556288C>T , CM000671.2:g.6556288C>T GRCh38
NC_000009.11:g.6556288C>T , CM000671.1:g.6556288C>T GRCh37
NC_000009.10:g.6546288C>T NCBI36
NG_016397.1:g.94405G>A , LRG_643:g.94405G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2067G>A MANE Select ENSP00000370737.4:p.Lys689=
ENST00000638233.1:n.502G>A
ENST00000638661.1:c.267G>A ENSP00000491369.1:p.Lys89=
ENST00000638694.1:n.254G>A
ENST00000639318.1:c.267G>A ENSP00000491932.1:p.Lys89=
ENST00000639364.1:n.1767G>A
ENST00000639443.1:n.1635G>A
ENST00000639954.1:n.1775G>A
ENST00000640505.1:n.306G>A
ENST00000321612.6:c.2067G>A ENSP00000370737.3:p.Lys689=
NM_000170.2:c.2067G>A , LRG_643t1:c.2067G>A NP_000161.2:p.Lys689=
NM_000170.3:c.2067G>A MANE Select NP_000161.2:p.Lys689=