Canonical Allele Identifier: CA519364266

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004560C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776285C>G , CM000685.2:g.154776285C>G	GRCh38
NC_000023.10:g.154004560C>G , CM000685.1:g.154004560C>G	GRCh37
NC_000023.9:g.153657754C>G	NCBI36
NG_009780.1:g.18530C>G , LRG_55:g.18530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*233C>G	ENSP00000400542.2:n.*233C>G
ENST00000426673.6:c.*879C>G	ENSP00000407253.3:n.*879C>G
ENST00000484317.6:n.1711C>G
ENST00000492372.2:n.375C>G
ENST00000696575.1:c.1422C>G	ENSP00000512730.1:p.Ala474=
ENST00000696577.1:c.1437C>G	ENSP00000512731.1:p.Ala479=
ENST00000696578.1:c.*389C>G	ENSP00000512732.1:n.*389C>G
ENST00000696579.1:n.2452C>G
ENST00000696580.1:c.1350C>G	ENSP00000512733.1:p.Ala450=
ENST00000696581.1:c.*1411C>G	ENSP00000512734.1:n.*1411C>G
ENST00000696582.1:c.*643C>G	ENSP00000512735.1:n.*643C>G
ENST00000696583.1:c.1398C>G	ENSP00000512736.1:p.Ala466=
ENST00000696584.1:n.1961C>G
ENST00000696585.1:n.2080C>G
ENST00000696586.1:n.1854C>G
ENST00000696587.1:c.1317C>G	ENSP00000512737.1:p.Ala439=
ENST00000696588.1:c.828C>G	ENSP00000513251.1:p.Ala276=
ENST00000696589.1:n.1212C>G
ENST00000696590.1:n.2463C>G
ENST00000696591.1:n.786C>G
ENST00000696592.1:n.3718C>G
ENST00000696627.1:c.*263C>G	ENSP00000512764.1:n.*263C>G
ENST00000696628.1:c.1437C>G	ENSP00000512765.1:p.Ala479=
ENST00000369550.10:c.1437C>G MANE Select	ENSP00000358563.5:p.Ala479=
ENST00000369550.9:c.1437C>G	ENSP00000358563.5:p.Ala479=
ENST00000492372.1:n.254C>G
ENST00000620277.4:c.*663C>G	ENSP00000478387.1:n.*663C>G
NM_001142463.2:c.1422C>G	NP_001135935.1:p.Ala474=
NM_001288747.1:c.*663C>G	NP_001275676.1:n.*663C>G
NM_001363.4:c.1437C>G	NP_001354.1:p.Ala479=
NR_110021.1:n.2138C>G
NR_110022.1:n.2257C>G
NR_110023.1:n.2031C>G
NM_001363.5:c.1437C>G MANE Select	NP_001354.1:p.Ala479=
NM_001142463.3:c.1422C>G	NP_001135935.1:p.Ala474=
NR_110021.2:n.2016C>G
NR_110022.2:n.2135C>G
NR_110023.2:n.1909C>G
NM_001288747.2:c.*663C>G	NP_001275676.1:n.*663C>G