Canonical Allele Identifier: CA463585540
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6556240C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556240C>A , CM000671.2:g.6556240C>A GRCh38
NC_000009.11:g.6556240C>A , CM000671.1:g.6556240C>A GRCh37
NC_000009.10:g.6546240C>A NCBI36
NG_016397.1:g.94453G>T , LRG_643:g.94453G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2115G>T MANE Select ENSP00000370737.4:p.Val705=
ENST00000638233.1:n.550G>T
ENST00000638661.1:c.315G>T ENSP00000491369.1:p.Val105=
ENST00000638694.1:n.302G>T
ENST00000639318.1:c.315G>T ENSP00000491932.1:p.Val105=
ENST00000639364.1:n.1815G>T
ENST00000639443.1:n.1683G>T
ENST00000639954.1:n.1823G>T
ENST00000640505.1:n.354G>T
ENST00000321612.6:c.2115G>T ENSP00000370737.3:p.Val705=
NM_000170.2:c.2115G>T , LRG_643t1:c.2115G>T NP_000161.2:p.Val705=
NM_000170.3:c.2115G>T MANE Select NP_000161.2:p.Val705=