Canonical Allele Identifier: CA414894904

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001411G>T (hg19) ; chrX:g.154773136G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773136G>T , CM000685.2:g.154773136G>T	GRCh38
NC_000023.10:g.154001411G>T , CM000685.1:g.154001411G>T	GRCh37
NC_000023.9:g.153654605G>T	NCBI36
NG_009780.1:g.15381G>T , LRG_55:g.15381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.922G>T	ENSP00000400542.2:p.Ala308Ser
ENST00000426673.6:c.*425G>T	ENSP00000407253.3:n.*425G>T
ENST00000484317.6:n.827G>T
ENST00000696575.1:c.1042G>T	ENSP00000512730.1:p.Ala348Ser
ENST00000696577.1:c.1042G>T	ENSP00000512731.1:p.Ala348Ser
ENST00000696578.1:c.921G>T	ENSP00000512732.1:p.Leu307Phe
ENST00000696579.1:n.1144G>T
ENST00000696580.1:c.955G>T	ENSP00000512733.1:p.Ala319Ser
ENST00000696581.1:c.*1016G>T	ENSP00000512734.1:n.*1016G>T
ENST00000696582.1:c.*248G>T	ENSP00000512735.1:n.*248G>T
ENST00000696583.1:c.1003G>T	ENSP00000512736.1:p.Ala335Ser
ENST00000696584.1:n.1566G>T
ENST00000696585.1:n.1685G>T
ENST00000696586.1:n.1459G>T
ENST00000696587.1:c.922G>T	ENSP00000512737.1:p.Ala308Ser
ENST00000696588.1:c.433G>T	ENSP00000513251.1:p.Ala145Ser
ENST00000696589.1:n.817G>T
ENST00000696590.1:n.666G>T
ENST00000696591.1:n.391G>T
ENST00000696592.1:n.1921G>T
ENST00000696627.1:c.1042G>T	ENSP00000512764.1:p.Ala348Ser
ENST00000696628.1:c.1042G>T	ENSP00000512765.1:p.Ala348Ser
ENST00000369550.10:c.1042G>T MANE Select	ENSP00000358563.5:p.Ala348Ser
ENST00000369550.9:c.1042G>T	ENSP00000358563.5:p.Ala348Ser
ENST00000412124.5:c.300G>T
ENST00000426673.5:c.402G>T
ENST00000475966.1:n.531G>T
ENST00000620277.4:c.1042G>T	ENSP00000478387.1:p.Ala348Ser
NM_001142463.2:c.1042G>T	NP_001135935.1:p.Ala348Ser
NM_001288747.1:c.1042G>T	NP_001275676.1:p.Ala348Ser
NM_001363.4:c.1042G>T	NP_001354.1:p.Ala348Ser
NR_110021.1:n.1743G>T
NR_110022.1:n.1862G>T
NR_110023.1:n.1636G>T
NM_001363.5:c.1042G>T MANE Select	NP_001354.1:p.Ala348Ser
NM_001142463.3:c.1042G>T	NP_001135935.1:p.Ala348Ser
NR_110021.2:n.1621G>T
NR_110022.2:n.1740G>T
NR_110023.2:n.1514G>T
NM_001288747.2:c.1042G>T	NP_001275676.1:p.Ala348Ser