Canonical Allele Identifier: CA414891799

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997577G>C (hg19) ; chrX:g.154769302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769302G>C , CM000685.2:g.154769302G>C	GRCh38
NC_000023.10:g.153997577G>C , CM000685.1:g.153997577G>C	GRCh37
NC_000023.9:g.153650771G>C	NCBI36
NG_009780.1:g.11547G>C , LRG_55:g.11547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.787G>C	ENSP00000400542.2:p.Asp263His
ENST00000426673.6:c.*290G>C	ENSP00000407253.3:n.*290G>C
ENST00000484317.6:n.692G>C
ENST00000696575.1:c.907G>C	ENSP00000512730.1:p.Asp303His
ENST00000696576.1:n.1009G>C
ENST00000696577.1:c.907G>C	ENSP00000512731.1:p.Asp303His
ENST00000696578.1:c.907G>C	ENSP00000512732.1:p.Asp303His
ENST00000696579.1:n.1009G>C
ENST00000696580.1:c.820G>C	ENSP00000512733.1:p.Asp274His
ENST00000696581.1:c.*881G>C	ENSP00000512734.1:n.*881G>C
ENST00000696582.1:c.*113G>C	ENSP00000512735.1:n.*113G>C
ENST00000696583.1:c.868G>C	ENSP00000512736.1:p.Asp290His
ENST00000696584.1:n.1431G>C
ENST00000696585.1:n.1550G>C
ENST00000696586.1:n.1324G>C
ENST00000696587.1:c.787G>C	ENSP00000512737.1:p.Asp263His
ENST00000696588.1:c.298G>C	ENSP00000513251.1:p.Asp100His
ENST00000696589.1:n.682G>C
ENST00000696590.1:n.531G>C
ENST00000696591.1:n.256G>C
ENST00000696627.1:c.907G>C	ENSP00000512764.1:p.Asp303His
ENST00000696628.1:c.907G>C	ENSP00000512765.1:p.Asp303His
ENST00000369550.10:c.907G>C MANE Select	ENSP00000358563.5:p.Asp303His
ENST00000369550.9:c.907G>C	ENSP00000358563.5:p.Asp303His
ENST00000412124.5:c.174-1457G>C
ENST00000426673.5:c.267G>C
ENST00000475966.1:n.396G>C
ENST00000484317.5:n.545G>C
ENST00000620277.4:c.907G>C	ENSP00000478387.1:p.Asp303His
NM_001142463.2:c.907G>C	NP_001135935.1:p.Asp303His
NM_001288747.1:c.907G>C	NP_001275676.1:p.Asp303His
NM_001363.4:c.907G>C	NP_001354.1:p.Asp303His
NR_110021.1:n.1608G>C
NR_110022.1:n.1727G>C
NR_110023.1:n.1501G>C
NM_001363.5:c.907G>C MANE Select	NP_001354.1:p.Asp303His
NM_001142463.3:c.907G>C	NP_001135935.1:p.Asp303His
NR_110021.2:n.1486G>C
NR_110022.2:n.1605G>C
NR_110023.2:n.1379G>C
NM_001288747.2:c.907G>C	NP_001275676.1:p.Asp303His