Canonical Allele Identifier: CA10567033

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154767042G>C , CM000685.2:g.154767042G>C	GRCh38
NC_000023.10:g.153995317G>C , CM000685.1:g.153995317G>C	GRCh37
NC_000023.9:g.153648511G>C	NCBI36
NG_009780.1:g.9287G>C , LRG_55:g.9287G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.494G>C MANE Select	NP_001354.1:p.Gly165Ala
ENST00000369550.10:c.494G>C MANE Select	ENSP00000358563.5:p.Gly165Ala
NM_001142463.2:c.494G>C	NP_001135935.1:p.Gly165Ala
NM_001142463.3:c.494G>C	NP_001135935.1:p.Gly165Ala
NM_001288747.1:c.494G>C	NP_001275676.1:p.Gly165Ala
NM_001288747.2:c.494G>C	NP_001275676.1:p.Gly165Ala
NM_001363.4:c.494G>C	NP_001354.1:p.Gly165Ala
NR_110021.1:n.1195G>C
NR_110021.2:n.1073G>C
NR_110022.1:n.1314G>C
NR_110022.2:n.1192G>C
NR_110023.1:n.718G>C
NR_110023.2:n.596G>C
ENST00000369550.9:c.494G>C	ENSP00000358563.5:p.Gly165Ala
ENST00000412124.5:c.27G>C
ENST00000413910.5:c.494G>C	ENSP00000400542.1:p.Gly165Ala
ENST00000413910.6:c.494G>C	ENSP00000400542.2:p.Gly165Ala
ENST00000426673.6:c.449-214G>C	ENSP00000407253.3:n.449-214G>C
ENST00000437719.5:c.450G>C
ENST00000452771.5:c.407-214G>C	ENSP00000407325.1:n.407-214G>C
ENST00000620277.4:c.494G>C	ENSP00000478387.1:p.Gly165Ala
ENST00000696575.1:c.494G>C	ENSP00000512730.1:p.Gly165Ala
ENST00000696576.1:n.596G>C
ENST00000696577.1:c.494G>C	ENSP00000512731.1:p.Gly165Ala
ENST00000696578.1:c.494G>C	ENSP00000512732.1:p.Gly165Ala
ENST00000696579.1:n.596G>C
ENST00000696580.1:c.407G>C	ENSP00000512733.1:p.Gly136Ala
ENST00000696581.1:c.*468G>C	ENSP00000512734.1:n.*468G>C
ENST00000696582.1:c.494G>C	ENSP00000512735.1:p.Gly165Ala
ENST00000696583.1:c.494G>C	ENSP00000512736.1:p.Gly165Ala
ENST00000696584.1:n.1018G>C
ENST00000696585.1:n.1137G>C
ENST00000696586.1:n.541G>C
ENST00000696587.1:c.449-269G>C	ENSP00000512737.1:n.449-269G>C
ENST00000696588.1:c.-116G>C	ENSP00000513251.1:n.-116G>C
ENST00000696627.1:c.494G>C	ENSP00000512764.1:p.Gly165Ala
ENST00000696628.1:c.494G>C	ENSP00000512765.1:p.Gly165Ala