Canonical Allele Identifier: CA414891121

Gene: DKC1

Linked Data

• dbSNP Id: rs2071790871
• MyVariant Identifiers: chrX:g.153997462T>A (hg19) ; chrX:g.154769187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769187T>A , CM000685.2:g.154769187T>A	GRCh38
NC_000023.10:g.153997462T>A , CM000685.1:g.153997462T>A	GRCh37
NC_000023.9:g.153650656T>A	NCBI36
NG_009780.1:g.11432T>A , LRG_55:g.11432T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.672T>A	ENSP00000400542.2:p.His224Gln
ENST00000426673.6:c.*175T>A	ENSP00000407253.3:n.*175T>A
ENST00000484317.6:n.577T>A
ENST00000696575.1:c.792T>A	ENSP00000512730.1:p.His264Gln
ENST00000696576.1:n.894T>A
ENST00000696577.1:c.792T>A	ENSP00000512731.1:p.His264Gln
ENST00000696578.1:c.792T>A	ENSP00000512732.1:p.His264Gln
ENST00000696579.1:n.894T>A
ENST00000696580.1:c.705T>A	ENSP00000512733.1:p.His235Gln
ENST00000696581.1:c.*766T>A	ENSP00000512734.1:n.*766T>A
ENST00000696582.1:c.661T>A	ENSP00000512735.1:p.Ter221Arg
ENST00000696583.1:c.772-19T>A	ENSP00000512736.1:n.772-19T>A
ENST00000696584.1:n.1316T>A
ENST00000696585.1:n.1435T>A
ENST00000696586.1:n.1209T>A
ENST00000696587.1:c.672T>A	ENSP00000512737.1:p.His224Gln
ENST00000696588.1:c.183T>A	ENSP00000513251.1:p.His61Gln
ENST00000696589.1:n.567T>A
ENST00000696590.1:n.416T>A
ENST00000696591.1:n.141T>A
ENST00000696627.1:c.792T>A	ENSP00000512764.1:p.His264Gln
ENST00000696628.1:c.792T>A	ENSP00000512765.1:p.His264Gln
ENST00000369550.10:c.792T>A MANE Select	ENSP00000358563.5:p.His264Gln
ENST00000369550.9:c.792T>A	ENSP00000358563.5:p.His264Gln
ENST00000412124.5:c.174-1572T>A
ENST00000413910.5:c.672T>A	ENSP00000400542.1:p.His224Gln
ENST00000426673.5:c.152T>A
ENST00000452771.5:c.685T>A	ENSP00000407325.1:n.685T>A
ENST00000475966.1:n.281T>A
ENST00000484317.5:n.430T>A
ENST00000620277.4:c.792T>A	ENSP00000478387.1:p.His264Gln
NM_001142463.2:c.792T>A	NP_001135935.1:p.His264Gln
NM_001288747.1:c.792T>A	NP_001275676.1:p.His264Gln
NM_001363.4:c.792T>A	NP_001354.1:p.His264Gln
NR_110021.1:n.1493T>A
NR_110022.1:n.1612T>A
NR_110023.1:n.1386T>A
NM_001363.5:c.792T>A MANE Select	NP_001354.1:p.His264Gln
NM_001142463.3:c.792T>A	NP_001135935.1:p.His264Gln
NR_110021.2:n.1371T>A
NR_110022.2:n.1490T>A
NR_110023.2:n.1264T>A
NM_001288747.2:c.792T>A	NP_001275676.1:p.His264Gln