Canonical Allele Identifier: CA414891458

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997530A>T (hg19) ; chrX:g.154769255A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769255A>T , CM000685.2:g.154769255A>T	GRCh38
NC_000023.10:g.153997530A>T , CM000685.1:g.153997530A>T	GRCh37
NC_000023.9:g.153650724A>T	NCBI36
NG_009780.1:g.11500A>T , LRG_55:g.11500A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.740A>T	ENSP00000400542.2:p.Tyr247Phe
ENST00000426673.6:c.*243A>T	ENSP00000407253.3:n.*243A>T
ENST00000484317.6:n.645A>T
ENST00000696575.1:c.860A>T	ENSP00000512730.1:p.Tyr287Phe
ENST00000696576.1:n.962A>T
ENST00000696577.1:c.860A>T	ENSP00000512731.1:p.Tyr287Phe
ENST00000696578.1:c.860A>T	ENSP00000512732.1:p.Tyr287Phe
ENST00000696579.1:n.962A>T
ENST00000696580.1:c.773A>T	ENSP00000512733.1:p.Tyr258Phe
ENST00000696581.1:c.*834A>T	ENSP00000512734.1:n.*834A>T
ENST00000696582.1:c.*66A>T	ENSP00000512735.1:n.*66A>T
ENST00000696583.1:c.821A>T	ENSP00000512736.1:p.Tyr274Phe
ENST00000696584.1:n.1384A>T
ENST00000696585.1:n.1503A>T
ENST00000696586.1:n.1277A>T
ENST00000696587.1:c.740A>T	ENSP00000512737.1:p.Tyr247Phe
ENST00000696588.1:c.251A>T	ENSP00000513251.1:p.Tyr84Phe
ENST00000696589.1:n.635A>T
ENST00000696590.1:n.484A>T
ENST00000696591.1:n.209A>T
ENST00000696627.1:c.860A>T	ENSP00000512764.1:p.Tyr287Phe
ENST00000696628.1:c.860A>T	ENSP00000512765.1:p.Tyr287Phe
ENST00000369550.10:c.860A>T MANE Select	ENSP00000358563.5:p.Tyr287Phe
ENST00000369550.9:c.860A>T	ENSP00000358563.5:p.Tyr287Phe
ENST00000412124.5:c.174-1504A>T
ENST00000413910.5:c.740A>T	ENSP00000400542.1:p.Tyr247Phe
ENST00000426673.5:c.220A>T
ENST00000475966.1:n.349A>T
ENST00000484317.5:n.498A>T
ENST00000620277.4:c.860A>T	ENSP00000478387.1:p.Tyr287Phe
NM_001142463.2:c.860A>T	NP_001135935.1:p.Tyr287Phe
NM_001288747.1:c.860A>T	NP_001275676.1:p.Tyr287Phe
NM_001363.4:c.860A>T	NP_001354.1:p.Tyr287Phe
NR_110021.1:n.1561A>T
NR_110022.1:n.1680A>T
NR_110023.1:n.1454A>T
NM_001363.5:c.860A>T MANE Select	NP_001354.1:p.Tyr287Phe
NM_001142463.3:c.860A>T	NP_001135935.1:p.Tyr287Phe
NR_110021.2:n.1439A>T
NR_110022.2:n.1558A>T
NR_110023.2:n.1332A>T
NM_001288747.2:c.860A>T	NP_001275676.1:p.Tyr287Phe