Canonical Allele Identifier: CA372884346
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6565365C>T , CM000671.2:g.6565365C>T GRCh38
NC_000009.11:g.6565365C>T , CM000671.1:g.6565365C>T GRCh37
NC_000009.10:g.6555365C>T NCBI36
NG_016397.1:g.85328G>A , LRG_643:g.85328G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1915G>A MANE Select ENSP00000370737.4:p.Gly639Arg
ENST00000460457.2:n.75G>A
ENST00000638233.1:n.350G>A
ENST00000638661.1:c.115G>A ENSP00000491369.1:p.Gly39Arg
ENST00000638694.1:n.102G>A
ENST00000639318.1:c.115G>A ENSP00000491932.1:p.Gly39Arg
ENST00000639364.1:n.1615G>A
ENST00000639443.1:n.1483G>A
ENST00000639954.1:n.1623G>A
ENST00000640208.1:c.115G>A ENSP00000491895.1:p.Gly39Arg
ENST00000640505.1:n.154G>A
ENST00000640592.1:n.1798G>A
ENST00000321612.6:c.1915G>A ENSP00000370737.3:p.Gly639Arg
ENST00000460457.1:n.54G>A
NM_000170.2:c.1915G>A , LRG_643t1:c.1915G>A NP_000161.2:p.Gly639Arg
NM_000170.3:c.1915G>A MANE Select NP_000161.2:p.Gly639Arg