Canonical Allele Identifier: CA4980067
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6536092C>T , CM000671.2:g.6536092C>T GRCh38
NC_000009.11:g.6536092C>T , CM000671.1:g.6536092C>T GRCh37
NC_000009.10:g.6526092C>T NCBI36
NG_016397.1:g.114601G>A , LRG_643:g.114601G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.2810G>A MANE Select NP_000161.2:p.Arg937His
ENST00000321612.8:c.2810G>A MANE Select ENSP00000370737.4:p.Arg937His
NM_000170.2:c.2810G>A , LRG_643t1:c.2810G>A NP_000161.2:p.Arg937His
ENST00000321612.6:c.2810G>A ENSP00000370737.3:p.Arg937His
ENST00000477960.1:n.274G>A
ENST00000638233.1:n.1245G>A
ENST00000638661.1:c.1010G>A ENSP00000491369.1:p.Arg337His
ENST00000638694.1:n.997G>A
ENST00000639318.1:c.914G>A ENSP00000491932.1:p.Arg305His
ENST00000639364.1:n.2510G>A
ENST00000639443.1:n.2378G>A
ENST00000639461.1:n.1911G>A
ENST00000639639.1:c.512G>A ENSP00000491312.1:p.Arg171His
ENST00000639954.1:n.2518G>A
ENST00000640505.1:n.1049G>A