Canonical Allele Identifier: CA463587243
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6644663G>C , CM000671.2:g.6644663G>C GRCh38
NC_000009.11:g.6644663G>C , CM000671.1:g.6644663G>C GRCh37
NC_000009.10:g.6634663G>C NCBI36
NG_016397.1:g.6030C>G , LRG_643:g.6030C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.285C>G MANE Select ENSP00000370737.4:p.Val95=
ENST00000639954.1:n.129C>G
ENST00000640592.1:n.168C>G
ENST00000321612.6:c.285C>G ENSP00000370737.3:p.Val95=
NM_000170.2:c.285C>G , LRG_643t1:c.285C>G NP_000161.2:p.Val95=
XM_024447726.1:c.302+330G>C XP_024303494.1:n.302+330G>C
NM_000170.3:c.285C>G MANE Select NP_000161.2:p.Val95=