Canonical Allele Identifier: CA1830493366
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556178A= , CM000671.2:g.6556178A= GRCh38
NC_000009.11:g.6556178A= , CM000671.1:g.6556178A= GRCh37
NC_000009.10:g.6546178A= NCBI36
NG_016397.1:g.94515T= , LRG_643:g.94515T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2177T= MANE Select ENSP00000370737.4:p.Leu726=
ENST00000638233.1:n.612T=
ENST00000638661.1:c.377T= ENSP00000491369.1:p.Leu126=
ENST00000638694.1:n.364T=
ENST00000639318.1:c.377T= ENSP00000491932.1:p.Leu126=
ENST00000639364.1:n.1877T=
ENST00000639443.1:n.1745T=
ENST00000639954.1:n.1885T=
ENST00000640505.1:n.416T=
ENST00000321612.6:c.2177T= ENSP00000370737.3:p.Leu726=
NM_000170.2:c.2177T= , LRG_643t1:c.2177T= NP_000161.2:p.Leu726=
NM_000170.3:c.2177T= MANE Select NP_000161.2:p.Leu726=