Canonical Allele Identifier: CA519357941

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001506G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773231G>A , CM000685.2:g.154773231G>A	GRCh38
NC_000023.10:g.154001506G>A , CM000685.1:g.154001506G>A	GRCh37
NC_000023.9:g.153654700G>A	NCBI36
NG_009780.1:g.15476G>A , LRG_55:g.15476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1017G>A	ENSP00000400542.2:p.Lys339=
ENST00000426673.6:c.*520G>A	ENSP00000407253.3:n.*520G>A
ENST00000484317.6:n.922G>A
ENST00000696575.1:c.1137G>A	ENSP00000512730.1:p.Lys379=
ENST00000696577.1:c.1137G>A	ENSP00000512731.1:p.Lys379=
ENST00000696578.1:c.*89G>A	ENSP00000512732.1:n.*89G>A
ENST00000696579.1:n.1239G>A
ENST00000696580.1:c.1050G>A	ENSP00000512733.1:p.Lys350=
ENST00000696581.1:c.*1111G>A	ENSP00000512734.1:n.*1111G>A
ENST00000696582.1:c.*343G>A	ENSP00000512735.1:n.*343G>A
ENST00000696583.1:c.1098G>A	ENSP00000512736.1:p.Lys366=
ENST00000696584.1:n.1661G>A
ENST00000696585.1:n.1780G>A
ENST00000696586.1:n.1554G>A
ENST00000696587.1:c.1017G>A	ENSP00000512737.1:p.Lys339=
ENST00000696588.1:c.528G>A	ENSP00000513251.1:p.Lys176=
ENST00000696589.1:n.912G>A
ENST00000696590.1:n.761G>A
ENST00000696591.1:n.486G>A
ENST00000696592.1:n.2016G>A
ENST00000696627.1:c.1137G>A	ENSP00000512764.1:p.Lys379=
ENST00000696628.1:c.1137G>A	ENSP00000512765.1:p.Lys379=
ENST00000369550.10:c.1137G>A MANE Select	ENSP00000358563.5:p.Lys379=
ENST00000369550.9:c.1137G>A	ENSP00000358563.5:p.Lys379=
ENST00000412124.5:c.395G>A
ENST00000426673.5:c.497G>A
ENST00000475966.1:n.626G>A
ENST00000481062.1:n.88G>A
ENST00000620277.4:c.1137G>A	ENSP00000478387.1:p.Lys379=
NM_001142463.2:c.1137G>A	NP_001135935.1:p.Lys379=
NM_001288747.1:c.1137G>A	NP_001275676.1:p.Lys379=
NM_001363.4:c.1137G>A	NP_001354.1:p.Lys379=
NR_110021.1:n.1838G>A
NR_110022.1:n.1957G>A
NR_110023.1:n.1731G>A
NM_001363.5:c.1137G>A MANE Select	NP_001354.1:p.Lys379=
NM_001142463.3:c.1137G>A	NP_001135935.1:p.Lys379=
NR_110021.2:n.1716G>A
NR_110022.2:n.1835G>A
NR_110023.2:n.1609G>A
NM_001288747.2:c.1137G>A	NP_001275676.1:p.Lys379=