Canonical Allele Identifier: CA372881913

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558614T>C (hg19) ; chr9:g.6558614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558614T>C , CM000671.2:g.6558614T>C	GRCh38
NC_000009.11:g.6558614T>C , CM000671.1:g.6558614T>C	GRCh37
NC_000009.10:g.6548614T>C	NCBI36
NG_016397.1:g.92079A>G , LRG_643:g.92079A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1997A>G MANE Select	ENSP00000370737.4:p.Gln666Arg
ENST00000460457.2:n.157A>G
ENST00000638233.1:n.432A>G
ENST00000638661.1:c.197A>G	ENSP00000491369.1:p.Gln66Arg
ENST00000638694.1:n.184A>G
ENST00000639318.1:c.197A>G	ENSP00000491932.1:p.Gln66Arg
ENST00000639364.1:n.1697A>G
ENST00000639443.1:n.1565A>G
ENST00000639954.1:n.1705A>G
ENST00000640208.1:c.197A>G	ENSP00000491895.1:p.Gln66Arg
ENST00000640505.1:n.236A>G
ENST00000640592.1:n.1880A>G
ENST00000321612.6:c.1997A>G	ENSP00000370737.3:p.Gln666Arg
ENST00000460457.1:n.136A>G
NM_000170.2:c.1997A>G , LRG_643t1:c.1997A>G	NP_000161.2:p.Gln666Arg
NM_000170.3:c.1997A>G MANE Select	NP_000161.2:p.Gln666Arg