Canonical Allele Identifier: CA414891455

Gene: DKC1

Linked Data

• dbSNP Id: rs2071791532
• MyVariant Identifiers: chrX:g.153997530A>G (hg19) ; chrX:g.154769255A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.740A>G	ENSP00000400542.2:p.Tyr247Cys
ENST00000426673.6:c.*243A>G	ENSP00000407253.3:n.*243A>G
ENST00000484317.6:n.645A>G
ENST00000696575.1:c.860A>G	ENSP00000512730.1:p.Tyr287Cys
ENST00000696576.1:n.962A>G
ENST00000696577.1:c.860A>G	ENSP00000512731.1:p.Tyr287Cys
ENST00000696578.1:c.860A>G	ENSP00000512732.1:p.Tyr287Cys
ENST00000696579.1:n.962A>G
ENST00000696580.1:c.773A>G	ENSP00000512733.1:p.Tyr258Cys
ENST00000696581.1:c.*834A>G	ENSP00000512734.1:n.*834A>G
ENST00000696582.1:c.*66A>G	ENSP00000512735.1:n.*66A>G
ENST00000696583.1:c.821A>G	ENSP00000512736.1:p.Tyr274Cys
ENST00000696584.1:n.1384A>G
ENST00000696585.1:n.1503A>G
ENST00000696586.1:n.1277A>G
ENST00000696587.1:c.740A>G	ENSP00000512737.1:p.Tyr247Cys
ENST00000696588.1:c.251A>G	ENSP00000513251.1:p.Tyr84Cys
ENST00000696589.1:n.635A>G
ENST00000696590.1:n.484A>G
ENST00000696591.1:n.209A>G
ENST00000696627.1:c.860A>G	ENSP00000512764.1:p.Tyr287Cys
ENST00000696628.1:c.860A>G	ENSP00000512765.1:p.Tyr287Cys
ENST00000369550.10:c.860A>G MANE Select	ENSP00000358563.5:p.Tyr287Cys
ENST00000369550.9:c.860A>G	ENSP00000358563.5:p.Tyr287Cys
ENST00000412124.5:c.174-1504A>G
ENST00000413910.5:c.740A>G	ENSP00000400542.1:p.Tyr247Cys
ENST00000426673.5:c.220A>G
ENST00000475966.1:n.349A>G
ENST00000484317.5:n.498A>G
ENST00000620277.4:c.860A>G	ENSP00000478387.1:p.Tyr287Cys
NM_001142463.2:c.860A>G	NP_001135935.1:p.Tyr287Cys
NM_001288747.1:c.860A>G	NP_001275676.1:p.Tyr287Cys
NM_001363.4:c.860A>G	NP_001354.1:p.Tyr287Cys
NR_110021.1:n.1561A>G
NR_110022.1:n.1680A>G
NR_110023.1:n.1454A>G
NM_001363.5:c.860A>G MANE Select	NP_001354.1:p.Tyr287Cys
NM_001142463.3:c.860A>G	NP_001135935.1:p.Tyr287Cys
NR_110021.2:n.1439A>G
NR_110022.2:n.1558A>G
NR_110023.2:n.1332A>G
NM_001288747.2:c.860A>G	NP_001275676.1:p.Tyr287Cys