Canonical Allele Identifier: CA2782786388
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555876G>T , CM000671.2:g.6555876G>T GRCh38
NC_000009.11:g.6555876G>T , CM000671.1:g.6555876G>T GRCh37
NC_000009.10:g.6545876G>T NCBI36
NG_016397.1:g.94817C>A , LRG_643:g.94817C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+277C>A MANE Select ENSP00000370737.4:n.2202+277C>A
ENST00000638233.1:n.637+277C>A
ENST00000638661.1:c.402+277C>A ENSP00000491369.1:n.402+277C>A
ENST00000638694.1:n.389+277C>A
ENST00000639318.1:c.402+277C>A ENSP00000491932.1:n.402+277C>A
ENST00000639364.1:n.1902+277C>A
ENST00000639443.1:n.1770+277C>A
ENST00000639954.1:n.1910+277C>A
ENST00000640505.1:n.441+277C>A
ENST00000321612.6:c.2202+277C>A ENSP00000370737.3:n.2202+277C>A
NM_000170.2:c.2202+277C>A , LRG_643t1:c.2202+277C>A NP_000161.2:n.2202+277C>A
NM_000170.3:c.2202+277C>A MANE Select NP_000161.2:n.2202+277C>A