Canonical Allele Identifier: CA414895947

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001488A>C (hg19) ; chrX:g.154773213A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773213A>C , CM000685.2:g.154773213A>C	GRCh38
NC_000023.10:g.154001488A>C , CM000685.1:g.154001488A>C	GRCh37
NC_000023.9:g.153654682A>C	NCBI36
NG_009780.1:g.15458A>C , LRG_55:g.15458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.999A>C	ENSP00000400542.2:p.Arg333Ser
ENST00000426673.6:c.*502A>C	ENSP00000407253.3:n.*502A>C
ENST00000484317.6:n.904A>C
ENST00000696575.1:c.1119A>C	ENSP00000512730.1:p.Arg373Ser
ENST00000696577.1:c.1119A>C	ENSP00000512731.1:p.Arg373Ser
ENST00000696578.1:c.*71A>C	ENSP00000512732.1:n.*71A>C
ENST00000696579.1:n.1221A>C
ENST00000696580.1:c.1032A>C	ENSP00000512733.1:p.Arg344Ser
ENST00000696581.1:c.*1093A>C	ENSP00000512734.1:n.*1093A>C
ENST00000696582.1:c.*325A>C	ENSP00000512735.1:n.*325A>C
ENST00000696583.1:c.1080A>C	ENSP00000512736.1:p.Arg360Ser
ENST00000696584.1:n.1643A>C
ENST00000696585.1:n.1762A>C
ENST00000696586.1:n.1536A>C
ENST00000696587.1:c.999A>C	ENSP00000512737.1:p.Arg333Ser
ENST00000696588.1:c.510A>C	ENSP00000513251.1:p.Arg170Ser
ENST00000696589.1:n.894A>C
ENST00000696590.1:n.743A>C
ENST00000696591.1:n.468A>C
ENST00000696592.1:n.1998A>C
ENST00000696627.1:c.1119A>C	ENSP00000512764.1:p.Arg373Ser
ENST00000696628.1:c.1119A>C	ENSP00000512765.1:p.Arg373Ser
ENST00000369550.10:c.1119A>C MANE Select	ENSP00000358563.5:p.Arg373Ser
ENST00000369550.9:c.1119A>C	ENSP00000358563.5:p.Arg373Ser
ENST00000412124.5:c.377A>C
ENST00000426673.5:c.479A>C
ENST00000475966.1:n.608A>C
ENST00000481062.1:n.70A>C
ENST00000620277.4:c.1119A>C	ENSP00000478387.1:p.Arg373Ser
NM_001142463.2:c.1119A>C	NP_001135935.1:p.Arg373Ser
NM_001288747.1:c.1119A>C	NP_001275676.1:p.Arg373Ser
NM_001363.4:c.1119A>C	NP_001354.1:p.Arg373Ser
NR_110021.1:n.1820A>C
NR_110022.1:n.1939A>C
NR_110023.1:n.1713A>C
NM_001363.5:c.1119A>C MANE Select	NP_001354.1:p.Arg373Ser
NM_001142463.3:c.1119A>C	NP_001135935.1:p.Arg373Ser
NR_110021.2:n.1698A>C
NR_110022.2:n.1817A>C
NR_110023.2:n.1591A>C
NM_001288747.2:c.1119A>C	NP_001275676.1:p.Arg373Ser