Canonical Allele Identifier: CA263319
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56054
ClinVar RCV Id: RCV000049463
dbSNP Id: rs386833535

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558680C>A , CM000671.2:g.6558680C>A GRCh38
NC_000009.11:g.6558680C>A , CM000671.1:g.6558680C>A GRCh37
NC_000009.10:g.6548680C>A NCBI36
NG_016397.1:g.92013G>T , LRG_643:g.92013G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1931G>T MANE Select ENSP00000370737.4:p.Cys644Phe
ENST00000460457.2:n.91G>T
ENST00000638233.1:n.366G>T
ENST00000638661.1:c.131G>T ENSP00000491369.1:p.Cys44Phe
ENST00000638694.1:n.118G>T
ENST00000639318.1:c.131G>T ENSP00000491932.1:p.Cys44Phe
ENST00000639364.1:n.1631G>T
ENST00000639443.1:n.1499G>T
ENST00000639954.1:n.1639G>T
ENST00000640208.1:c.131G>T ENSP00000491895.1:p.Cys44Phe
ENST00000640505.1:n.170G>T
ENST00000640592.1:n.1814G>T
ENST00000321612.6:c.1931G>T ENSP00000370737.3:p.Cys644Phe
ENST00000460457.1:n.70G>T
NM_000170.2:c.1931G>T , LRG_643t1:c.1931G>T NP_000161.2:p.Cys644Phe
NM_000170.3:c.1931G>T MANE Select NP_000161.2:p.Cys644Phe