Canonical Allele Identifier: CA372894059
Gene: GLDC HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6592933A>G , CM000671.2:g.6592933A>G GRCh38
NC_000009.11:g.6592933A>G , CM000671.1:g.6592933A>G GRCh37
NC_000009.10:g.6582933A>G NCBI36
NG_016397.1:g.57760T>C , LRG_643:g.57760T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1319T>C MANE Select ENSP00000370737.4:p.Ile440Thr
ENST00000639364.1:n.1019T>C
ENST00000639443.1:n.887T>C
ENST00000639493.1:n.471T>C
ENST00000639954.1:n.1027T>C
ENST00000640592.1:n.1202T>C
ENST00000640703.1:n.162T>C
ENST00000321612.6:c.1319T>C ENSP00000370737.3:p.Ile440Thr
ENST00000463305.1:n.403T>C
NM_000170.2:c.1319T>C , LRG_643t1:c.1319T>C NP_000161.2:p.Ile440Thr
NM_000170.3:c.1319T>C MANE Select NP_000161.2:p.Ile440Thr