Canonical Allele Identifier: CA463585614
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6558595T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558595T>C , CM000671.2:g.6558595T>C GRCh38
NC_000009.11:g.6558595T>C , CM000671.1:g.6558595T>C GRCh37
NC_000009.10:g.6548595T>C NCBI36
NG_016397.1:g.92098A>G , LRG_643:g.92098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2016A>G MANE Select ENSP00000370737.4:p.Lys672=
ENST00000460457.2:n.176A>G
ENST00000638233.1:n.451A>G
ENST00000638661.1:c.216A>G ENSP00000491369.1:p.Lys72=
ENST00000638694.1:n.203A>G
ENST00000639318.1:c.216A>G ENSP00000491932.1:p.Lys72=
ENST00000639364.1:n.1716A>G
ENST00000639443.1:n.1584A>G
ENST00000639954.1:n.1724A>G
ENST00000640208.1:c.216A>G ENSP00000491895.1:p.Lys72=
ENST00000640505.1:n.255A>G
ENST00000640592.1:n.1899A>G
ENST00000321612.6:c.2016A>G ENSP00000370737.3:p.Lys672=
ENST00000460457.1:n.155A>G
NM_000170.2:c.2016A>G , LRG_643t1:c.2016A>G NP_000161.2:p.Lys672=
NM_000170.3:c.2016A>G MANE Select NP_000161.2:p.Lys672=