Canonical Allele Identifier: CA519357767

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001413A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773138A>T , CM000685.2:g.154773138A>T	GRCh38
NC_000023.10:g.154001413A>T , CM000685.1:g.154001413A>T	GRCh37
NC_000023.9:g.153654607A>T	NCBI36
NG_009780.1:g.15383A>T , LRG_55:g.15383A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.924A>T	ENSP00000400542.2:p.Ala308=
ENST00000426673.6:c.*427A>T	ENSP00000407253.3:n.*427A>T
ENST00000484317.6:n.829A>T
ENST00000696575.1:c.1044A>T	ENSP00000512730.1:p.Ala348=
ENST00000696577.1:c.1044A>T	ENSP00000512731.1:p.Ala348=
ENST00000696578.1:c.923A>T	ENSP00000512732.1:p.His308Leu
ENST00000696579.1:n.1146A>T
ENST00000696580.1:c.957A>T	ENSP00000512733.1:p.Ala319=
ENST00000696581.1:c.*1018A>T	ENSP00000512734.1:n.*1018A>T
ENST00000696582.1:c.*250A>T	ENSP00000512735.1:n.*250A>T
ENST00000696583.1:c.1005A>T	ENSP00000512736.1:p.Ala335=
ENST00000696584.1:n.1568A>T
ENST00000696585.1:n.1687A>T
ENST00000696586.1:n.1461A>T
ENST00000696587.1:c.924A>T	ENSP00000512737.1:p.Ala308=
ENST00000696588.1:c.435A>T	ENSP00000513251.1:p.Ala145=
ENST00000696589.1:n.819A>T
ENST00000696590.1:n.668A>T
ENST00000696591.1:n.393A>T
ENST00000696592.1:n.1923A>T
ENST00000696627.1:c.1044A>T	ENSP00000512764.1:p.Ala348=
ENST00000696628.1:c.1044A>T	ENSP00000512765.1:p.Ala348=
ENST00000369550.10:c.1044A>T MANE Select	ENSP00000358563.5:p.Ala348=
ENST00000369550.9:c.1044A>T	ENSP00000358563.5:p.Ala348=
ENST00000412124.5:c.302A>T
ENST00000426673.5:c.404A>T
ENST00000475966.1:n.533A>T
ENST00000620277.4:c.1044A>T	ENSP00000478387.1:p.Ala348=
NM_001142463.2:c.1044A>T	NP_001135935.1:p.Ala348=
NM_001288747.1:c.1044A>T	NP_001275676.1:p.Ala348=
NM_001363.4:c.1044A>T	NP_001354.1:p.Ala348=
NR_110021.1:n.1745A>T
NR_110022.1:n.1864A>T
NR_110023.1:n.1638A>T
NM_001363.5:c.1044A>T MANE Select	NP_001354.1:p.Ala348=
NM_001142463.3:c.1044A>T	NP_001135935.1:p.Ala348=
NR_110021.2:n.1623A>T
NR_110022.2:n.1742A>T
NR_110023.2:n.1516A>T
NM_001288747.2:c.1044A>T	NP_001275676.1:p.Ala348=