Canonical Allele Identifier: CA372882201
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558674A>G , CM000671.2:g.6558674A>G GRCh38
NC_000009.11:g.6558674A>G , CM000671.1:g.6558674A>G GRCh37
NC_000009.10:g.6548674A>G NCBI36
NG_016397.1:g.92019T>C , LRG_643:g.92019T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1937T>C MANE Select ENSP00000370737.4:p.Ile646Thr
ENST00000460457.2:n.97T>C
ENST00000638233.1:n.372T>C
ENST00000638661.1:c.137T>C ENSP00000491369.1:p.Ile46Thr
ENST00000638694.1:n.124T>C
ENST00000639318.1:c.137T>C ENSP00000491932.1:p.Ile46Thr
ENST00000639364.1:n.1637T>C
ENST00000639443.1:n.1505T>C
ENST00000639954.1:n.1645T>C
ENST00000640208.1:c.137T>C ENSP00000491895.1:p.Ile46Thr
ENST00000640505.1:n.176T>C
ENST00000640592.1:n.1820T>C
ENST00000321612.6:c.1937T>C ENSP00000370737.3:p.Ile646Thr
ENST00000460457.1:n.76T>C
NM_000170.2:c.1937T>C , LRG_643t1:c.1937T>C NP_000161.2:p.Ile646Thr
NM_000170.3:c.1937T>C MANE Select NP_000161.2:p.Ile646Thr