Canonical Allele Identifier: CA372884348
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1915G>T MANE Select ENSP00000370737.4:p.Gly639Trp
ENST00000460457.2:n.75G>T
ENST00000638233.1:n.350G>T
ENST00000638661.1:c.115G>T ENSP00000491369.1:p.Gly39Trp
ENST00000638694.1:n.102G>T
ENST00000639318.1:c.115G>T ENSP00000491932.1:p.Gly39Trp
ENST00000639364.1:n.1615G>T
ENST00000639443.1:n.1483G>T
ENST00000639954.1:n.1623G>T
ENST00000640208.1:c.115G>T ENSP00000491895.1:p.Gly39Trp
ENST00000640505.1:n.154G>T
ENST00000640592.1:n.1798G>T
ENST00000321612.6:c.1915G>T ENSP00000370737.3:p.Gly639Trp
ENST00000460457.1:n.54G>T
NM_000170.2:c.1915G>T , LRG_643t1:c.1915G>T NP_000161.2:p.Gly639Trp
NM_000170.3:c.1915G>T MANE Select NP_000161.2:p.Gly639Trp