Canonical Allele Identifier: CA414891610

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997556C>A (hg19) ; chrX:g.154769281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769281C>A , CM000685.2:g.154769281C>A	GRCh38
NC_000023.10:g.153997556C>A , CM000685.1:g.153997556C>A	GRCh37
NC_000023.9:g.153650750C>A	NCBI36
NG_009780.1:g.11526C>A , LRG_55:g.11526C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.766C>A	ENSP00000400542.2:p.His256Asn
ENST00000426673.6:c.*269C>A	ENSP00000407253.3:n.*269C>A
ENST00000484317.6:n.671C>A
ENST00000696575.1:c.886C>A	ENSP00000512730.1:p.His296Asn
ENST00000696576.1:n.988C>A
ENST00000696577.1:c.886C>A	ENSP00000512731.1:p.His296Asn
ENST00000696578.1:c.886C>A	ENSP00000512732.1:p.His296Asn
ENST00000696579.1:n.988C>A
ENST00000696580.1:c.799C>A	ENSP00000512733.1:p.His267Asn
ENST00000696581.1:c.*860C>A	ENSP00000512734.1:n.*860C>A
ENST00000696582.1:c.*92C>A	ENSP00000512735.1:n.*92C>A
ENST00000696583.1:c.847C>A	ENSP00000512736.1:p.His283Asn
ENST00000696584.1:n.1410C>A
ENST00000696585.1:n.1529C>A
ENST00000696586.1:n.1303C>A
ENST00000696587.1:c.766C>A	ENSP00000512737.1:p.His256Asn
ENST00000696588.1:c.277C>A	ENSP00000513251.1:p.His93Asn
ENST00000696589.1:n.661C>A
ENST00000696590.1:n.510C>A
ENST00000696591.1:n.235C>A
ENST00000696627.1:c.886C>A	ENSP00000512764.1:p.His296Asn
ENST00000696628.1:c.886C>A	ENSP00000512765.1:p.His296Asn
ENST00000369550.10:c.886C>A MANE Select	ENSP00000358563.5:p.His296Asn
ENST00000369550.9:c.886C>A	ENSP00000358563.5:p.His296Asn
ENST00000412124.5:c.174-1478C>A
ENST00000413910.5:c.766C>A	ENSP00000400542.1:p.His256Asn
ENST00000426673.5:c.246C>A
ENST00000475966.1:n.375C>A
ENST00000484317.5:n.524C>A
ENST00000620277.4:c.886C>A	ENSP00000478387.1:p.His296Asn
NM_001142463.2:c.886C>A	NP_001135935.1:p.His296Asn
NM_001288747.1:c.886C>A	NP_001275676.1:p.His296Asn
NM_001363.4:c.886C>A	NP_001354.1:p.His296Asn
NR_110021.1:n.1587C>A
NR_110022.1:n.1706C>A
NR_110023.1:n.1480C>A
NM_001363.5:c.886C>A MANE Select	NP_001354.1:p.His296Asn
NM_001142463.3:c.886C>A	NP_001135935.1:p.His296Asn
NR_110021.2:n.1465C>A
NR_110022.2:n.1584C>A
NR_110023.2:n.1358C>A
NM_001288747.2:c.886C>A	NP_001275676.1:p.His296Asn