Canonical Allele Identifier: CA4980068

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6536093G>A , CM000671.2:g.6536093G>A	GRCh38
NC_000009.11:g.6536093G>A , CM000671.1:g.6536093G>A	GRCh37
NC_000009.10:g.6526093G>A	NCBI36
NG_016397.1:g.114600C>T , LRG_643:g.114600C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000170.3:c.2809C>T MANE Select	NP_000161.2:p.Arg937Cys
ENST00000321612.8:c.2809C>T MANE Select	ENSP00000370737.4:p.Arg937Cys
NM_000170.2:c.2809C>T , LRG_643t1:c.2809C>T	NP_000161.2:p.Arg937Cys
ENST00000321612.6:c.2809C>T	ENSP00000370737.3:p.Arg937Cys
ENST00000477960.1:n.273C>T
ENST00000638233.1:n.1244C>T
ENST00000638661.1:c.1009C>T	ENSP00000491369.1:p.Arg337Cys
ENST00000638694.1:n.996C>T
ENST00000639318.1:c.913C>T	ENSP00000491932.1:p.Arg305Cys
ENST00000639364.1:n.2509C>T
ENST00000639443.1:n.2377C>T
ENST00000639461.1:n.1910C>T
ENST00000639639.1:c.511C>T	ENSP00000491312.1:p.Arg171Cys
ENST00000639954.1:n.2517C>T
ENST00000640505.1:n.1048C>T