Canonical Allele Identifier: CA188650992
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs376946439
gnomAD v2: 9-6556293-G-A
gnomAD v3: 9-6556293-G-A
gnomAD v4: 9-6556293-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556293G>A , CM000671.2:g.6556293G>A GRCh38
NC_000009.11:g.6556293G>A , CM000671.1:g.6556293G>A GRCh37
NC_000009.10:g.6546293G>A NCBI36
NG_016397.1:g.94400C>T , LRG_643:g.94400C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2062C>T MANE Select ENSP00000370737.4:p.His688Tyr
ENST00000638233.1:n.497C>T
ENST00000638661.1:c.262C>T ENSP00000491369.1:p.His88Tyr
ENST00000638694.1:n.249C>T
ENST00000639318.1:c.262C>T ENSP00000491932.1:p.His88Tyr
ENST00000639364.1:n.1762C>T
ENST00000639443.1:n.1630C>T
ENST00000639954.1:n.1770C>T
ENST00000640505.1:n.301C>T
ENST00000321612.6:c.2062C>T ENSP00000370737.3:p.His688Tyr
NM_000170.2:c.2062C>T , LRG_643t1:c.2062C>T NP_000161.2:p.His688Tyr
NM_000170.3:c.2062C>T MANE Select NP_000161.2:p.His688Tyr