Canonical Allele Identifier: CA645247893
Gene: DKC1 HGNC NCBI

Linked Data

dbSNP Id: rs1557265103
MyVariant Identifiers: chrX:g.154001369C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773094C>T , CM000685.2:g.154773094C>T GRCh38
NC_000023.10:g.154001369C>T , CM000685.1:g.154001369C>T GRCh37
NC_000023.9:g.153654563C>T NCBI36
NG_009780.1:g.15339C>T , LRG_55:g.15339C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.917-37C>T ENSP00000400542.2:n.917-37C>T
ENST00000426673.6:c.*420-37C>T ENSP00000407253.3:n.*420-37C>T
ENST00000484317.6:n.822-37C>T
ENST00000696575.1:c.1037-37C>T ENSP00000512730.1:n.1037-37C>T
ENST00000696577.1:c.1037-37C>T ENSP00000512731.1:n.1037-37C>T
ENST00000696578.1:c.916-37C>T ENSP00000512732.1:n.916-37C>T
ENST00000696579.1:n.1139-37C>T
ENST00000696580.1:c.950-37C>T ENSP00000512733.1:n.950-37C>T
ENST00000696581.1:c.*1011-37C>T ENSP00000512734.1:n.*1011-37C>T
ENST00000696582.1:c.*243-37C>T ENSP00000512735.1:n.*243-37C>T
ENST00000696583.1:c.998-37C>T ENSP00000512736.1:n.998-37C>T
ENST00000696584.1:n.1561-37C>T
ENST00000696585.1:n.1680-37C>T
ENST00000696586.1:n.1454-37C>T
ENST00000696587.1:c.917-37C>T ENSP00000512737.1:n.917-37C>T
ENST00000696588.1:c.428-37C>T ENSP00000513251.1:n.428-37C>T
ENST00000696589.1:n.812-37C>T
ENST00000696590.1:n.661-37C>T
ENST00000696591.1:n.386-37C>T
ENST00000696592.1:n.1879C>T
ENST00000696627.1:c.1037-37C>T ENSP00000512764.1:n.1037-37C>T
ENST00000696628.1:c.1037-37C>T ENSP00000512765.1:n.1037-37C>T
ENST00000369550.10:c.1037-37C>T MANE Select ENSP00000358563.5:n.1037-37C>T
ENST00000369550.9:c.1037-37C>T ENSP00000358563.5:n.1037-37C>T
ENST00000412124.5:c.295-37C>T
ENST00000426673.5:c.397-37C>T
ENST00000475966.1:n.526-37C>T
ENST00000620277.4:c.1037-37C>T ENSP00000478387.1:n.1037-37C>T
NM_001142463.2:c.1037-37C>T NP_001135935.1:n.1037-37C>T
NM_001288747.1:c.1037-37C>T NP_001275676.1:n.1037-37C>T
NM_001363.4:c.1037-37C>T NP_001354.1:n.1037-37C>T
NR_110021.1:n.1738-37C>T
NR_110022.1:n.1857-37C>T
NR_110023.1:n.1631-37C>T
NM_001363.5:c.1037-37C>T MANE Select NP_001354.1:n.1037-37C>T
NM_001142463.3:c.1037-37C>T NP_001135935.1:n.1037-37C>T
NR_110021.2:n.1616-37C>T
NR_110022.2:n.1735-37C>T
NR_110023.2:n.1509-37C>T
NM_001288747.2:c.1037-37C>T NP_001275676.1:n.1037-37C>T