Canonical Allele Identifier: CA372880400
Community Standard Title: NM_000170.3(GLDC):c.2216G>C (p.Arg739Pro)
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6554768C>G , CM000671.2:g.6554768C>G GRCh38
NC_000009.11:g.6554768C>G , CM000671.1:g.6554768C>G GRCh37
NC_000009.10:g.6544768C>G NCBI36
NG_016397.1:g.95925G>C , LRG_643:g.95925G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.2216G>C MANE Select NP_000161.2:p.Arg739Pro
ENST00000321612.8:c.2216G>C MANE Select ENSP00000370737.4:p.Arg739Pro
NM_000170.2:c.2216G>C , LRG_643t1:c.2216G>C NP_000161.2:p.Arg739Pro
ENST00000321612.6:c.2216G>C ENSP00000370737.3:p.Arg739Pro
ENST00000467946.1:n.142G>C
ENST00000638233.1:n.651G>C
ENST00000638661.1:c.416G>C ENSP00000491369.1:p.Arg139Pro
ENST00000638694.1:n.403G>C
ENST00000639318.1:c.416G>C ENSP00000491932.1:p.Arg139Pro
ENST00000639364.1:n.1916G>C
ENST00000639443.1:n.1784G>C
ENST00000639639.1:c.-83G>C ENSP00000491312.1:n.-83G>C
ENST00000639954.1:n.1924G>C
ENST00000640505.1:n.455G>C