Canonical Allele Identifier: CA1830493352
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556165A= , CM000671.2:g.6556165A= GRCh38
NC_000009.11:g.6556165A= , CM000671.1:g.6556165A= GRCh37
NC_000009.10:g.6546165A= NCBI36
NG_016397.1:g.94528T= , LRG_643:g.94528T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2190T= MANE Select ENSP00000370737.4:p.Asn730=
ENST00000638233.1:n.625T=
ENST00000638661.1:c.390T= ENSP00000491369.1:p.Asn130=
ENST00000638694.1:n.377T=
ENST00000639318.1:c.390T= ENSP00000491932.1:p.Asn130=
ENST00000639364.1:n.1890T=
ENST00000639443.1:n.1758T=
ENST00000639954.1:n.1898T=
ENST00000640505.1:n.429T=
ENST00000321612.6:c.2190T= ENSP00000370737.3:p.Asn730=
NM_000170.2:c.2190T= , LRG_643t1:c.2190T= NP_000161.2:p.Asn730=
NM_000170.3:c.2190T= MANE Select NP_000161.2:p.Asn730=