Canonical Allele Identifier: CA414899354

Gene: DKC1

Linked Data

• ClinVar Variation Id: 941784
• ClinVar RCV Id: RCV001211636
• dbSNP Id: rs2071893244
• MyVariant Identifiers: chrX:g.154004475G>A (hg19) ; chrX:g.154776200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776200G>A , CM000685.2:g.154776200G>A	GRCh38
NC_000023.10:g.154004475G>A , CM000685.1:g.154004475G>A	GRCh37
NC_000023.9:g.153657669G>A	NCBI36
NG_009780.1:g.18445G>A , LRG_55:g.18445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*148G>A	ENSP00000400542.2:n.*148G>A
ENST00000426673.6:c.*794G>A	ENSP00000407253.3:n.*794G>A
ENST00000484317.6:n.1626G>A
ENST00000492372.2:n.290G>A
ENST00000696575.1:c.1337G>A	ENSP00000512730.1:p.Ser446Asn
ENST00000696577.1:c.1352G>A	ENSP00000512731.1:p.Ser451Asn
ENST00000696578.1:c.*304G>A	ENSP00000512732.1:n.*304G>A
ENST00000696579.1:n.2367G>A
ENST00000696580.1:c.1265G>A	ENSP00000512733.1:p.Ser422Asn
ENST00000696581.1:c.*1326G>A	ENSP00000512734.1:n.*1326G>A
ENST00000696582.1:c.*558G>A	ENSP00000512735.1:n.*558G>A
ENST00000696583.1:c.1313G>A	ENSP00000512736.1:p.Ser438Asn
ENST00000696584.1:n.1876G>A
ENST00000696585.1:n.1995G>A
ENST00000696586.1:n.1769G>A
ENST00000696587.1:c.1232G>A	ENSP00000512737.1:p.Ser411Asn
ENST00000696588.1:c.743G>A	ENSP00000513251.1:p.Ser248Asn
ENST00000696589.1:n.1127G>A
ENST00000696590.1:n.2378G>A
ENST00000696591.1:n.701G>A
ENST00000696592.1:n.3633G>A
ENST00000696627.1:c.*178G>A	ENSP00000512764.1:n.*178G>A
ENST00000696628.1:c.1352G>A	ENSP00000512765.1:p.Ser451Asn
ENST00000369550.10:c.1352G>A MANE Select	ENSP00000358563.5:p.Ser451Asn
ENST00000369550.9:c.1352G>A	ENSP00000358563.5:p.Ser451Asn
ENST00000412124.5:c.610G>A
ENST00000426673.5:c.771G>A
ENST00000475966.1:n.841G>A
ENST00000492372.1:n.169G>A
ENST00000620277.4:c.*578G>A	ENSP00000478387.1:n.*578G>A
NM_001142463.2:c.1337G>A	NP_001135935.1:p.Ser446Asn
NM_001288747.1:c.*578G>A	NP_001275676.1:n.*578G>A
NM_001363.4:c.1352G>A	NP_001354.1:p.Ser451Asn
NR_110021.1:n.2053G>A
NR_110022.1:n.2172G>A
NR_110023.1:n.1946G>A
NM_001363.5:c.1352G>A MANE Select	NP_001354.1:p.Ser451Asn
NM_001142463.3:c.1337G>A	NP_001135935.1:p.Ser446Asn
NR_110021.2:n.1931G>A
NR_110022.2:n.2050G>A
NR_110023.2:n.1824G>A
NM_001288747.2:c.*578G>A	NP_001275676.1:n.*578G>A