Canonical Allele Identifier: CA414894899

Gene: DKC1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.922G>C	ENSP00000400542.2:p.Ala308Pro
ENST00000426673.6:c.*425G>C	ENSP00000407253.3:n.*425G>C
ENST00000484317.6:n.827G>C
ENST00000696575.1:c.1042G>C	ENSP00000512730.1:p.Ala348Pro
ENST00000696577.1:c.1042G>C	ENSP00000512731.1:p.Ala348Pro
ENST00000696578.1:c.921G>C	ENSP00000512732.1:p.Leu307Phe
ENST00000696579.1:n.1144G>C
ENST00000696580.1:c.955G>C	ENSP00000512733.1:p.Ala319Pro
ENST00000696581.1:c.*1016G>C	ENSP00000512734.1:n.*1016G>C
ENST00000696582.1:c.*248G>C	ENSP00000512735.1:n.*248G>C
ENST00000696583.1:c.1003G>C	ENSP00000512736.1:p.Ala335Pro
ENST00000696584.1:n.1566G>C
ENST00000696585.1:n.1685G>C
ENST00000696586.1:n.1459G>C
ENST00000696587.1:c.922G>C	ENSP00000512737.1:p.Ala308Pro
ENST00000696588.1:c.433G>C	ENSP00000513251.1:p.Ala145Pro
ENST00000696589.1:n.817G>C
ENST00000696590.1:n.666G>C
ENST00000696591.1:n.391G>C
ENST00000696592.1:n.1921G>C
ENST00000696627.1:c.1042G>C	ENSP00000512764.1:p.Ala348Pro
ENST00000696628.1:c.1042G>C	ENSP00000512765.1:p.Ala348Pro
ENST00000369550.10:c.1042G>C MANE Select	ENSP00000358563.5:p.Ala348Pro
ENST00000369550.9:c.1042G>C	ENSP00000358563.5:p.Ala348Pro
ENST00000412124.5:c.300G>C
ENST00000426673.5:c.402G>C
ENST00000475966.1:n.531G>C
ENST00000620277.4:c.1042G>C	ENSP00000478387.1:p.Ala348Pro
NM_001142463.2:c.1042G>C	NP_001135935.1:p.Ala348Pro
NM_001288747.1:c.1042G>C	NP_001275676.1:p.Ala348Pro
NM_001363.4:c.1042G>C	NP_001354.1:p.Ala348Pro
NR_110021.1:n.1743G>C
NR_110022.1:n.1862G>C
NR_110023.1:n.1636G>C
NM_001363.5:c.1042G>C MANE Select	NP_001354.1:p.Ala348Pro
NM_001142463.3:c.1042G>C	NP_001135935.1:p.Ala348Pro
NR_110021.2:n.1621G>C
NR_110022.2:n.1740G>C
NR_110023.2:n.1514G>C
NM_001288747.2:c.1042G>C	NP_001275676.1:p.Ala348Pro