Canonical Allele Identifier: CA414895955

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001489G>C (hg19) ; chrX:g.154773214G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773214G>C , CM000685.2:g.154773214G>C	GRCh38
NC_000023.10:g.154001489G>C , CM000685.1:g.154001489G>C	GRCh37
NC_000023.9:g.153654683G>C	NCBI36
NG_009780.1:g.15459G>C , LRG_55:g.15459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1000G>C	ENSP00000400542.2:p.Asp334His
ENST00000426673.6:c.*503G>C	ENSP00000407253.3:n.*503G>C
ENST00000484317.6:n.905G>C
ENST00000696575.1:c.1120G>C	ENSP00000512730.1:p.Asp374His
ENST00000696577.1:c.1120G>C	ENSP00000512731.1:p.Asp374His
ENST00000696578.1:c.*72G>C	ENSP00000512732.1:n.*72G>C
ENST00000696579.1:n.1222G>C
ENST00000696580.1:c.1033G>C	ENSP00000512733.1:p.Asp345His
ENST00000696581.1:c.*1094G>C	ENSP00000512734.1:n.*1094G>C
ENST00000696582.1:c.*326G>C	ENSP00000512735.1:n.*326G>C
ENST00000696583.1:c.1081G>C	ENSP00000512736.1:p.Asp361His
ENST00000696584.1:n.1644G>C
ENST00000696585.1:n.1763G>C
ENST00000696586.1:n.1537G>C
ENST00000696587.1:c.1000G>C	ENSP00000512737.1:p.Asp334His
ENST00000696588.1:c.511G>C	ENSP00000513251.1:p.Asp171His
ENST00000696589.1:n.895G>C
ENST00000696590.1:n.744G>C
ENST00000696591.1:n.469G>C
ENST00000696592.1:n.1999G>C
ENST00000696627.1:c.1120G>C	ENSP00000512764.1:p.Asp374His
ENST00000696628.1:c.1120G>C	ENSP00000512765.1:p.Asp374His
ENST00000369550.10:c.1120G>C MANE Select	ENSP00000358563.5:p.Asp374His
ENST00000369550.9:c.1120G>C	ENSP00000358563.5:p.Asp374His
ENST00000412124.5:c.378G>C
ENST00000426673.5:c.480G>C
ENST00000475966.1:n.609G>C
ENST00000481062.1:n.71G>C
ENST00000620277.4:c.1120G>C	ENSP00000478387.1:p.Asp374His
NM_001142463.2:c.1120G>C	NP_001135935.1:p.Asp374His
NM_001288747.1:c.1120G>C	NP_001275676.1:p.Asp374His
NM_001363.4:c.1120G>C	NP_001354.1:p.Asp374His
NR_110021.1:n.1821G>C
NR_110022.1:n.1940G>C
NR_110023.1:n.1714G>C
NM_001363.5:c.1120G>C MANE Select	NP_001354.1:p.Asp374His
NM_001142463.3:c.1120G>C	NP_001135935.1:p.Asp374His
NR_110021.2:n.1699G>C
NR_110022.2:n.1818G>C
NR_110023.2:n.1592G>C
NM_001288747.2:c.1120G>C	NP_001275676.1:p.Asp374His