Canonical Allele Identifier: CA414891901

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997586G>C (hg19) ; chrX:g.154769311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769311G>C , CM000685.2:g.154769311G>C	GRCh38
NC_000023.10:g.153997586G>C , CM000685.1:g.153997586G>C	GRCh37
NC_000023.9:g.153650780G>C	NCBI36
NG_009780.1:g.11556G>C , LRG_55:g.11556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.795+1G>C	ENSP00000400542.2:n.795+1G>C
ENST00000426673.6:c.*298+1G>C	ENSP00000407253.3:n.*298+1G>C
ENST00000484317.6:n.700+1G>C
ENST00000696575.1:c.915+1G>C	ENSP00000512730.1:n.915+1G>C
ENST00000696576.1:n.1018G>C
ENST00000696577.1:c.915+1G>C	ENSP00000512731.1:n.915+1G>C
ENST00000696578.1:c.915+1G>C	ENSP00000512732.1:n.915+1G>C
ENST00000696579.1:n.1017+1G>C
ENST00000696580.1:c.828+1G>C	ENSP00000512733.1:n.828+1G>C
ENST00000696581.1:c.*889+1G>C	ENSP00000512734.1:n.*889+1G>C
ENST00000696582.1:c.*121+1G>C	ENSP00000512735.1:n.*121+1G>C
ENST00000696583.1:c.876+1G>C	ENSP00000512736.1:n.876+1G>C
ENST00000696584.1:n.1439+1G>C
ENST00000696585.1:n.1558+1G>C
ENST00000696586.1:n.1332+1G>C
ENST00000696587.1:c.795+1G>C	ENSP00000512737.1:n.795+1G>C
ENST00000696588.1:c.306+1G>C	ENSP00000513251.1:n.306+1G>C
ENST00000696589.1:n.690+1G>C
ENST00000696590.1:n.539+1G>C
ENST00000696591.1:n.264+1G>C
ENST00000696627.1:c.915+1G>C	ENSP00000512764.1:n.915+1G>C
ENST00000696628.1:c.915+1G>C	ENSP00000512765.1:n.915+1G>C
ENST00000369550.10:c.915+1G>C MANE Select	ENSP00000358563.5:n.915+1G>C
ENST00000369550.9:c.915+1G>C	ENSP00000358563.5:n.915+1G>C
ENST00000412124.5:c.174-1448G>C
ENST00000426673.5:c.275+1G>C
ENST00000475966.1:n.404+1G>C
ENST00000484317.5:n.553+1G>C
ENST00000620277.4:c.915+1G>C	ENSP00000478387.1:n.915+1G>C
NM_001142463.2:c.915+1G>C	NP_001135935.1:n.915+1G>C
NM_001288747.1:c.915+1G>C	NP_001275676.1:n.915+1G>C
NM_001363.4:c.915+1G>C	NP_001354.1:n.915+1G>C
NR_110021.1:n.1616+1G>C
NR_110022.1:n.1735+1G>C
NR_110023.1:n.1509+1G>C
NM_001363.5:c.915+1G>C MANE Select	NP_001354.1:n.915+1G>C
NM_001142463.3:c.915+1G>C	NP_001135935.1:n.915+1G>C
NR_110021.2:n.1494+1G>C
NR_110022.2:n.1613+1G>C
NR_110023.2:n.1387+1G>C
NM_001288747.2:c.915+1G>C	NP_001275676.1:n.915+1G>C