Canonical Allele Identifier: CA463585574
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6556300C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556300C>A , CM000671.2:g.6556300C>A GRCh38
NC_000009.11:g.6556300C>A , CM000671.1:g.6556300C>A GRCh37
NC_000009.10:g.6546300C>A NCBI36
NG_016397.1:g.94393G>T , LRG_643:g.94393G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2055G>T MANE Select ENSP00000370737.4:p.Val685=
ENST00000638233.1:n.490G>T
ENST00000638661.1:c.255G>T ENSP00000491369.1:p.Val85=
ENST00000638694.1:n.242G>T
ENST00000639318.1:c.255G>T ENSP00000491932.1:p.Val85=
ENST00000639364.1:n.1755G>T
ENST00000639443.1:n.1623G>T
ENST00000639954.1:n.1763G>T
ENST00000640505.1:n.294G>T
ENST00000321612.6:c.2055G>T ENSP00000370737.3:p.Val685=
NM_000170.2:c.2055G>T , LRG_643t1:c.2055G>T NP_000161.2:p.Val685=
NM_000170.3:c.2055G>T MANE Select NP_000161.2:p.Val685=