Canonical Allele Identifier: CA1830492811
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1316235538

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555797del , CM000671.2:g.6555797del GRCh38
NC_000009.11:g.6555797del , CM000671.1:g.6555797del GRCh37
NC_000009.10:g.6545797del NCBI36
NG_016397.1:g.94902del , LRG_643:g.94902del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+362del MANE Select ENSP00000370737.4:n.2202+362del
ENST00000638233.1:n.637+362del
ENST00000638661.1:c.402+362del ENSP00000491369.1:n.402+362del
ENST00000638694.1:n.389+362del
ENST00000639318.1:c.402+362del ENSP00000491932.1:n.402+362del
ENST00000639364.1:n.1902+362del
ENST00000639443.1:n.1770+362del
ENST00000639954.1:n.1910+362del
ENST00000640505.1:n.441+362del
ENST00000321612.6:c.2202+362del ENSP00000370737.3:n.2202+362del
NM_000170.2:c.2202+362del , LRG_643t1:c.2202+362del NP_000161.2:n.2202+362del
NM_000170.3:c.2202+362del MANE Select NP_000161.2:n.2202+362del