Canonical Allele Identifier: CA2547917321
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558696A>G , CM000671.2:g.6558696A>G GRCh38
NC_000009.11:g.6558696A>G , CM000671.1:g.6558696A>G GRCh37
NC_000009.10:g.6548696A>G NCBI36
NG_016397.1:g.91997T>C , LRG_643:g.91997T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1927-12T>C MANE Select ENSP00000370737.4:n.1927-12T>C
ENST00000460457.2:n.87-12T>C
ENST00000638233.1:n.362-12T>C
ENST00000638661.1:c.127-12T>C ENSP00000491369.1:n.127-12T>C
ENST00000638694.1:n.114-12T>C
ENST00000639318.1:c.127-12T>C ENSP00000491932.1:n.127-12T>C
ENST00000639364.1:n.1627-12T>C
ENST00000639443.1:n.1495-12T>C
ENST00000639954.1:n.1635-12T>C
ENST00000640208.1:c.127-12T>C ENSP00000491895.1:n.127-12T>C
ENST00000640505.1:n.166-12T>C
ENST00000640592.1:n.1810-12T>C
ENST00000321612.6:c.1927-12T>C ENSP00000370737.3:n.1927-12T>C
ENST00000460457.1:n.66-12T>C
NM_000170.2:c.1927-12T>C , LRG_643t1:c.1927-12T>C NP_000161.2:n.1927-12T>C
NM_000170.3:c.1927-12T>C MANE Select NP_000161.2:n.1927-12T>C