Canonical Allele Identifier: CA414899347

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004474A>C (hg19) ; chrX:g.154776199A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776199A>C , CM000685.2:g.154776199A>C	GRCh38
NC_000023.10:g.154004474A>C , CM000685.1:g.154004474A>C	GRCh37
NC_000023.9:g.153657668A>C	NCBI36
NG_009780.1:g.18444A>C , LRG_55:g.18444A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*147A>C	ENSP00000400542.2:n.*147A>C
ENST00000426673.6:c.*793A>C	ENSP00000407253.3:n.*793A>C
ENST00000484317.6:n.1625A>C
ENST00000492372.2:n.289A>C
ENST00000696575.1:c.1336A>C	ENSP00000512730.1:p.Ser446Arg
ENST00000696577.1:c.1351A>C	ENSP00000512731.1:p.Ser451Arg
ENST00000696578.1:c.*303A>C	ENSP00000512732.1:n.*303A>C
ENST00000696579.1:n.2366A>C
ENST00000696580.1:c.1264A>C	ENSP00000512733.1:p.Ser422Arg
ENST00000696581.1:c.*1325A>C	ENSP00000512734.1:n.*1325A>C
ENST00000696582.1:c.*557A>C	ENSP00000512735.1:n.*557A>C
ENST00000696583.1:c.1312A>C	ENSP00000512736.1:p.Ser438Arg
ENST00000696584.1:n.1875A>C
ENST00000696585.1:n.1994A>C
ENST00000696586.1:n.1768A>C
ENST00000696587.1:c.1231A>C	ENSP00000512737.1:p.Ser411Arg
ENST00000696588.1:c.742A>C	ENSP00000513251.1:p.Ser248Arg
ENST00000696589.1:n.1126A>C
ENST00000696590.1:n.2377A>C
ENST00000696591.1:n.700A>C
ENST00000696592.1:n.3632A>C
ENST00000696627.1:c.*177A>C	ENSP00000512764.1:n.*177A>C
ENST00000696628.1:c.1351A>C	ENSP00000512765.1:p.Ser451Arg
ENST00000369550.10:c.1351A>C MANE Select	ENSP00000358563.5:p.Ser451Arg
ENST00000369550.9:c.1351A>C	ENSP00000358563.5:p.Ser451Arg
ENST00000412124.5:c.609A>C
ENST00000426673.5:c.770A>C
ENST00000475966.1:n.840A>C
ENST00000492372.1:n.168A>C
ENST00000620277.4:c.*577A>C	ENSP00000478387.1:n.*577A>C
NM_001142463.2:c.1336A>C	NP_001135935.1:p.Ser446Arg
NM_001288747.1:c.*577A>C	NP_001275676.1:n.*577A>C
NM_001363.4:c.1351A>C	NP_001354.1:p.Ser451Arg
NR_110021.1:n.2052A>C
NR_110022.1:n.2171A>C
NR_110023.1:n.1945A>C
NM_001363.5:c.1351A>C MANE Select	NP_001354.1:p.Ser451Arg
NM_001142463.3:c.1336A>C	NP_001135935.1:p.Ser446Arg
NR_110021.2:n.1930A>C
NR_110022.2:n.2049A>C
NR_110023.2:n.1823A>C
NM_001288747.2:c.*577A>C	NP_001275676.1:n.*577A>C