Canonical Allele Identifier: CA414888920

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153993764G>A (hg19) ; chrX:g.154765489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765489G>A , CM000685.2:g.154765489G>A	GRCh38
NC_000023.10:g.153993764G>A , CM000685.1:g.153993764G>A	GRCh37
NC_000023.9:g.153646958G>A	NCBI36
NG_009780.1:g.7734G>A , LRG_55:g.7734G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.130G>A	ENSP00000400542.2:p.Val44Ile
ENST00000426673.6:c.130G>A	ENSP00000407253.3:p.Val44Ile
ENST00000696575.1:c.130G>A	ENSP00000512730.1:p.Val44Ile
ENST00000696576.1:n.232G>A
ENST00000696577.1:c.130G>A	ENSP00000512731.1:p.Val44Ile
ENST00000696578.1:c.130G>A	ENSP00000512732.1:p.Val44Ile
ENST00000696579.1:n.232G>A
ENST00000696580.1:c.85-418G>A	ENSP00000512733.1:n.85-418G>A
ENST00000696581.1:c.*104G>A	ENSP00000512734.1:n.*104G>A
ENST00000696582.1:c.130G>A	ENSP00000512735.1:p.Val44Ile
ENST00000696583.1:c.130G>A	ENSP00000512736.1:p.Val44Ile
ENST00000696584.1:n.654G>A
ENST00000696585.1:n.177G>A
ENST00000696586.1:n.177G>A
ENST00000696587.1:c.130G>A	ENSP00000512737.1:p.Val44Ile
ENST00000696588.1:c.-480G>A	ENSP00000513251.1:n.-480G>A
ENST00000696627.1:c.130G>A	ENSP00000512764.1:p.Val44Ile
ENST00000696628.1:c.130G>A	ENSP00000512765.1:p.Val44Ile
ENST00000369550.10:c.130G>A MANE Select	ENSP00000358563.5:p.Val44Ile
ENST00000369550.9:c.130G>A	ENSP00000358563.5:p.Val44Ile
ENST00000413910.5:c.130G>A	ENSP00000400542.1:p.Val44Ile
ENST00000437719.5:c.86G>A
ENST00000452771.5:c.88G>A	ENSP00000407325.1:p.Val30Ile
ENST00000473552.1:n.183G>A
ENST00000620277.4:c.130G>A	ENSP00000478387.1:p.Val44Ile
NM_001142463.2:c.130G>A	NP_001135935.1:p.Val44Ile
NM_001288747.1:c.130G>A	NP_001275676.1:p.Val44Ile
NM_001363.4:c.130G>A	NP_001354.1:p.Val44Ile
NR_110021.1:n.831G>A
NR_110022.1:n.354G>A
NR_110023.1:n.354G>A
NM_001363.5:c.130G>A MANE Select	NP_001354.1:p.Val44Ile
NM_001142463.3:c.130G>A	NP_001135935.1:p.Val44Ile
NR_110021.2:n.709G>A
NR_110022.2:n.232G>A
NR_110023.2:n.232G>A
NM_001288747.2:c.130G>A	NP_001275676.1:p.Val44Ile