Canonical Allele Identifier: CA414891189

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997476C>G (hg19) ; chrX:g.154769201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769201C>G , CM000685.2:g.154769201C>G	GRCh38
NC_000023.10:g.153997476C>G , CM000685.1:g.153997476C>G	GRCh37
NC_000023.9:g.153650670C>G	NCBI36
NG_009780.1:g.11446C>G , LRG_55:g.11446C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.686C>G	ENSP00000400542.2:p.Ala229Gly
ENST00000426673.6:c.*189C>G	ENSP00000407253.3:n.*189C>G
ENST00000484317.6:n.591C>G
ENST00000696575.1:c.806C>G	ENSP00000512730.1:p.Ala269Gly
ENST00000696576.1:n.908C>G
ENST00000696577.1:c.806C>G	ENSP00000512731.1:p.Ala269Gly
ENST00000696578.1:c.806C>G	ENSP00000512732.1:p.Ala269Gly
ENST00000696579.1:n.908C>G
ENST00000696580.1:c.719C>G	ENSP00000512733.1:p.Ala240Gly
ENST00000696581.1:c.*780C>G	ENSP00000512734.1:n.*780C>G
ENST00000696582.1:c.*12C>G	ENSP00000512735.1:n.*12C>G
ENST00000696583.1:c.772-5C>G	ENSP00000512736.1:n.772-5C>G
ENST00000696584.1:n.1330C>G
ENST00000696585.1:n.1449C>G
ENST00000696586.1:n.1223C>G
ENST00000696587.1:c.686C>G	ENSP00000512737.1:p.Ala229Gly
ENST00000696588.1:c.197C>G	ENSP00000513251.1:p.Ala66Gly
ENST00000696589.1:n.581C>G
ENST00000696590.1:n.430C>G
ENST00000696591.1:n.155C>G
ENST00000696627.1:c.806C>G	ENSP00000512764.1:p.Ala269Gly
ENST00000696628.1:c.806C>G	ENSP00000512765.1:p.Ala269Gly
ENST00000369550.10:c.806C>G MANE Select	ENSP00000358563.5:p.Ala269Gly
ENST00000369550.9:c.806C>G	ENSP00000358563.5:p.Ala269Gly
ENST00000412124.5:c.174-1558C>G
ENST00000413910.5:c.686C>G	ENSP00000400542.1:p.Ala229Gly
ENST00000426673.5:c.166C>G
ENST00000452771.5:c.699C>G	ENSP00000407325.1:n.699C>G
ENST00000475966.1:n.295C>G
ENST00000484317.5:n.444C>G
ENST00000620277.4:c.806C>G	ENSP00000478387.1:p.Ala269Gly
NM_001142463.2:c.806C>G	NP_001135935.1:p.Ala269Gly
NM_001288747.1:c.806C>G	NP_001275676.1:p.Ala269Gly
NM_001363.4:c.806C>G	NP_001354.1:p.Ala269Gly
NR_110021.1:n.1507C>G
NR_110022.1:n.1626C>G
NR_110023.1:n.1400C>G
NM_001363.5:c.806C>G MANE Select	NP_001354.1:p.Ala269Gly
NM_001142463.3:c.806C>G	NP_001135935.1:p.Ala269Gly
NR_110021.2:n.1385C>G
NR_110022.2:n.1504C>G
NR_110023.2:n.1278C>G
NM_001288747.2:c.806C>G	NP_001275676.1:p.Ala269Gly