Canonical Allele Identifier: CA414895871

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001478T>G (hg19) ; chrX:g.154773203T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773203T>G , CM000685.2:g.154773203T>G	GRCh38
NC_000023.10:g.154001478T>G , CM000685.1:g.154001478T>G	GRCh37
NC_000023.9:g.153654672T>G	NCBI36
NG_009780.1:g.15448T>G , LRG_55:g.15448T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.989T>G	ENSP00000400542.2:p.Ile330Ser
ENST00000426673.6:c.*492T>G	ENSP00000407253.3:n.*492T>G
ENST00000484317.6:n.894T>G
ENST00000696575.1:c.1109T>G	ENSP00000512730.1:p.Ile370Ser
ENST00000696577.1:c.1109T>G	ENSP00000512731.1:p.Ile370Ser
ENST00000696578.1:c.*61T>G	ENSP00000512732.1:n.*61T>G
ENST00000696579.1:n.1211T>G
ENST00000696580.1:c.1022T>G	ENSP00000512733.1:p.Ile341Ser
ENST00000696581.1:c.*1083T>G	ENSP00000512734.1:n.*1083T>G
ENST00000696582.1:c.*315T>G	ENSP00000512735.1:n.*315T>G
ENST00000696583.1:c.1070T>G	ENSP00000512736.1:p.Ile357Ser
ENST00000696584.1:n.1633T>G
ENST00000696585.1:n.1752T>G
ENST00000696586.1:n.1526T>G
ENST00000696587.1:c.989T>G	ENSP00000512737.1:p.Ile330Ser
ENST00000696588.1:c.500T>G	ENSP00000513251.1:p.Ile167Ser
ENST00000696589.1:n.884T>G
ENST00000696590.1:n.733T>G
ENST00000696591.1:n.458T>G
ENST00000696592.1:n.1988T>G
ENST00000696627.1:c.1109T>G	ENSP00000512764.1:p.Ile370Ser
ENST00000696628.1:c.1109T>G	ENSP00000512765.1:p.Ile370Ser
ENST00000369550.10:c.1109T>G MANE Select	ENSP00000358563.5:p.Ile370Ser
ENST00000369550.9:c.1109T>G	ENSP00000358563.5:p.Ile370Ser
ENST00000412124.5:c.367T>G
ENST00000426673.5:c.469T>G
ENST00000475966.1:n.598T>G
ENST00000481062.1:n.60T>G
ENST00000620277.4:c.1109T>G	ENSP00000478387.1:p.Ile370Ser
NM_001142463.2:c.1109T>G	NP_001135935.1:p.Ile370Ser
NM_001288747.1:c.1109T>G	NP_001275676.1:p.Ile370Ser
NM_001363.4:c.1109T>G	NP_001354.1:p.Ile370Ser
NR_110021.1:n.1810T>G
NR_110022.1:n.1929T>G
NR_110023.1:n.1703T>G
NM_001363.5:c.1109T>G MANE Select	NP_001354.1:p.Ile370Ser
NM_001142463.3:c.1109T>G	NP_001135935.1:p.Ile370Ser
NR_110021.2:n.1688T>G
NR_110022.2:n.1807T>G
NR_110023.2:n.1581T>G
NM_001288747.2:c.1109T>G	NP_001275676.1:p.Ile370Ser