Canonical Allele Identifier: CA1830496489
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558677A= , CM000671.2:g.6558677A= GRCh38
NC_000009.11:g.6558677A= , CM000671.1:g.6558677A= GRCh37
NC_000009.10:g.6548677A= NCBI36
NG_016397.1:g.92016T= , LRG_643:g.92016T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1934T= MANE Select ENSP00000370737.4:p.Leu645=
ENST00000460457.2:n.94T=
ENST00000638233.1:n.369T=
ENST00000638661.1:c.134T= ENSP00000491369.1:p.Leu45=
ENST00000638694.1:n.121T=
ENST00000639318.1:c.134T= ENSP00000491932.1:p.Leu45=
ENST00000639364.1:n.1634T=
ENST00000639443.1:n.1502T=
ENST00000639954.1:n.1642T=
ENST00000640208.1:c.134T= ENSP00000491895.1:p.Leu45=
ENST00000640505.1:n.173T=
ENST00000640592.1:n.1817T=
ENST00000321612.6:c.1934T= ENSP00000370737.3:p.Leu645=
ENST00000460457.1:n.73T=
NM_000170.2:c.1934T= , LRG_643t1:c.1934T= NP_000161.2:p.Leu645=
NM_000170.3:c.1934T= MANE Select NP_000161.2:p.Leu645=