Canonical Allele Identifier: CA414895972

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001492A>G (hg19) ; chrX:g.154773217A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773217A>G , CM000685.2:g.154773217A>G	GRCh38
NC_000023.10:g.154001492A>G , CM000685.1:g.154001492A>G	GRCh37
NC_000023.9:g.153654686A>G	NCBI36
NG_009780.1:g.15462A>G , LRG_55:g.15462A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1003A>G	ENSP00000400542.2:p.Thr335Ala
ENST00000426673.6:c.*506A>G	ENSP00000407253.3:n.*506A>G
ENST00000484317.6:n.908A>G
ENST00000696575.1:c.1123A>G	ENSP00000512730.1:p.Thr375Ala
ENST00000696577.1:c.1123A>G	ENSP00000512731.1:p.Thr375Ala
ENST00000696578.1:c.*75A>G	ENSP00000512732.1:n.*75A>G
ENST00000696579.1:n.1225A>G
ENST00000696580.1:c.1036A>G	ENSP00000512733.1:p.Thr346Ala
ENST00000696581.1:c.*1097A>G	ENSP00000512734.1:n.*1097A>G
ENST00000696582.1:c.*329A>G	ENSP00000512735.1:n.*329A>G
ENST00000696583.1:c.1084A>G	ENSP00000512736.1:p.Thr362Ala
ENST00000696584.1:n.1647A>G
ENST00000696585.1:n.1766A>G
ENST00000696586.1:n.1540A>G
ENST00000696587.1:c.1003A>G	ENSP00000512737.1:p.Thr335Ala
ENST00000696588.1:c.514A>G	ENSP00000513251.1:p.Thr172Ala
ENST00000696589.1:n.898A>G
ENST00000696590.1:n.747A>G
ENST00000696591.1:n.472A>G
ENST00000696592.1:n.2002A>G
ENST00000696627.1:c.1123A>G	ENSP00000512764.1:p.Thr375Ala
ENST00000696628.1:c.1123A>G	ENSP00000512765.1:p.Thr375Ala
ENST00000369550.10:c.1123A>G MANE Select	ENSP00000358563.5:p.Thr375Ala
ENST00000369550.9:c.1123A>G	ENSP00000358563.5:p.Thr375Ala
ENST00000412124.5:c.381A>G
ENST00000426673.5:c.483A>G
ENST00000475966.1:n.612A>G
ENST00000481062.1:n.74A>G
ENST00000620277.4:c.1123A>G	ENSP00000478387.1:p.Thr375Ala
NM_001142463.2:c.1123A>G	NP_001135935.1:p.Thr375Ala
NM_001288747.1:c.1123A>G	NP_001275676.1:p.Thr375Ala
NM_001363.4:c.1123A>G	NP_001354.1:p.Thr375Ala
NR_110021.1:n.1824A>G
NR_110022.1:n.1943A>G
NR_110023.1:n.1717A>G
NM_001363.5:c.1123A>G MANE Select	NP_001354.1:p.Thr375Ala
NM_001142463.3:c.1123A>G	NP_001135935.1:p.Thr375Ala
NR_110021.2:n.1702A>G
NR_110022.2:n.1821A>G
NR_110023.2:n.1595A>G
NM_001288747.2:c.1123A>G	NP_001275676.1:p.Thr375Ala