Canonical Allele Identifier: CA519356189

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997570T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769295T>A , CM000685.2:g.154769295T>A	GRCh38
NC_000023.10:g.153997570T>A , CM000685.1:g.153997570T>A	GRCh37
NC_000023.9:g.153650764T>A	NCBI36
NG_009780.1:g.11540T>A , LRG_55:g.11540T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.780T>A	ENSP00000400542.2:p.Val260=
ENST00000426673.6:c.*283T>A	ENSP00000407253.3:n.*283T>A
ENST00000484317.6:n.685T>A
ENST00000696575.1:c.900T>A	ENSP00000512730.1:p.Val300=
ENST00000696576.1:n.1002T>A
ENST00000696577.1:c.900T>A	ENSP00000512731.1:p.Val300=
ENST00000696578.1:c.900T>A	ENSP00000512732.1:p.Val300=
ENST00000696579.1:n.1002T>A
ENST00000696580.1:c.813T>A	ENSP00000512733.1:p.Val271=
ENST00000696581.1:c.*874T>A	ENSP00000512734.1:n.*874T>A
ENST00000696582.1:c.*106T>A	ENSP00000512735.1:n.*106T>A
ENST00000696583.1:c.861T>A	ENSP00000512736.1:p.Val287=
ENST00000696584.1:n.1424T>A
ENST00000696585.1:n.1543T>A
ENST00000696586.1:n.1317T>A
ENST00000696587.1:c.780T>A	ENSP00000512737.1:p.Val260=
ENST00000696588.1:c.291T>A	ENSP00000513251.1:p.Val97=
ENST00000696589.1:n.675T>A
ENST00000696590.1:n.524T>A
ENST00000696591.1:n.249T>A
ENST00000696627.1:c.900T>A	ENSP00000512764.1:p.Val300=
ENST00000696628.1:c.900T>A	ENSP00000512765.1:p.Val300=
ENST00000369550.10:c.900T>A MANE Select	ENSP00000358563.5:p.Val300=
ENST00000369550.9:c.900T>A	ENSP00000358563.5:p.Val300=
ENST00000412124.5:c.174-1464T>A
ENST00000426673.5:c.260T>A
ENST00000475966.1:n.389T>A
ENST00000484317.5:n.538T>A
ENST00000620277.4:c.900T>A	ENSP00000478387.1:p.Val300=
NM_001142463.2:c.900T>A	NP_001135935.1:p.Val300=
NM_001288747.1:c.900T>A	NP_001275676.1:p.Val300=
NM_001363.4:c.900T>A	NP_001354.1:p.Val300=
NR_110021.1:n.1601T>A
NR_110022.1:n.1720T>A
NR_110023.1:n.1494T>A
NM_001363.5:c.900T>A MANE Select	NP_001354.1:p.Val300=
NM_001142463.3:c.900T>A	NP_001135935.1:p.Val300=
NR_110021.2:n.1479T>A
NR_110022.2:n.1598T>A
NR_110023.2:n.1372T>A
NM_001288747.2:c.900T>A	NP_001275676.1:p.Val300=