Canonical Allele Identifier: CA519357837

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001449T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773174T>C , CM000685.2:g.154773174T>C	GRCh38
NC_000023.10:g.154001449T>C , CM000685.1:g.154001449T>C	GRCh37
NC_000023.9:g.153654643T>C	NCBI36
NG_009780.1:g.15419T>C , LRG_55:g.15419T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.960T>C	ENSP00000400542.2:p.His320=
ENST00000426673.6:c.*463T>C	ENSP00000407253.3:n.*463T>C
ENST00000484317.6:n.865T>C
ENST00000696575.1:c.1080T>C	ENSP00000512730.1:p.His360=
ENST00000696577.1:c.1080T>C	ENSP00000512731.1:p.His360=
ENST00000696578.1:c.*32T>C	ENSP00000512732.1:n.*32T>C
ENST00000696579.1:n.1182T>C
ENST00000696580.1:c.993T>C	ENSP00000512733.1:p.His331=
ENST00000696581.1:c.*1054T>C	ENSP00000512734.1:n.*1054T>C
ENST00000696582.1:c.*286T>C	ENSP00000512735.1:n.*286T>C
ENST00000696583.1:c.1041T>C	ENSP00000512736.1:p.His347=
ENST00000696584.1:n.1604T>C
ENST00000696585.1:n.1723T>C
ENST00000696586.1:n.1497T>C
ENST00000696587.1:c.960T>C	ENSP00000512737.1:p.His320=
ENST00000696588.1:c.471T>C	ENSP00000513251.1:p.His157=
ENST00000696589.1:n.855T>C
ENST00000696590.1:n.704T>C
ENST00000696591.1:n.429T>C
ENST00000696592.1:n.1959T>C
ENST00000696627.1:c.1080T>C	ENSP00000512764.1:p.His360=
ENST00000696628.1:c.1080T>C	ENSP00000512765.1:p.His360=
ENST00000369550.10:c.1080T>C MANE Select	ENSP00000358563.5:p.His360=
ENST00000369550.9:c.1080T>C	ENSP00000358563.5:p.His360=
ENST00000412124.5:c.338T>C
ENST00000426673.5:c.440T>C
ENST00000475966.1:n.569T>C
ENST00000481062.1:n.31T>C
ENST00000620277.4:c.1080T>C	ENSP00000478387.1:p.His360=
NM_001142463.2:c.1080T>C	NP_001135935.1:p.His360=
NM_001288747.1:c.1080T>C	NP_001275676.1:p.His360=
NM_001363.4:c.1080T>C	NP_001354.1:p.His360=
NR_110021.1:n.1781T>C
NR_110022.1:n.1900T>C
NR_110023.1:n.1674T>C
NM_001363.5:c.1080T>C MANE Select	NP_001354.1:p.His360=
NM_001142463.3:c.1080T>C	NP_001135935.1:p.His360=
NR_110021.2:n.1659T>C
NR_110022.2:n.1778T>C
NR_110023.2:n.1552T>C
NM_001288747.2:c.1080T>C	NP_001275676.1:p.His360=