Canonical Allele Identifier: CA519357761

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001410T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773135T>A , CM000685.2:g.154773135T>A	GRCh38
NC_000023.10:g.154001410T>A , CM000685.1:g.154001410T>A	GRCh37
NC_000023.9:g.153654604T>A	NCBI36
NG_009780.1:g.15380T>A , LRG_55:g.15380T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.921T>A	ENSP00000400542.2:p.Ile307=
ENST00000426673.6:c.*424T>A	ENSP00000407253.3:n.*424T>A
ENST00000484317.6:n.826T>A
ENST00000696575.1:c.1041T>A	ENSP00000512730.1:p.Ile347=
ENST00000696577.1:c.1041T>A	ENSP00000512731.1:p.Ile347=
ENST00000696578.1:c.920T>A	ENSP00000512732.1:p.Leu307Ter
ENST00000696579.1:n.1143T>A
ENST00000696580.1:c.954T>A	ENSP00000512733.1:p.Ile318=
ENST00000696581.1:c.*1015T>A	ENSP00000512734.1:n.*1015T>A
ENST00000696582.1:c.*247T>A	ENSP00000512735.1:n.*247T>A
ENST00000696583.1:c.1002T>A	ENSP00000512736.1:p.Ile334=
ENST00000696584.1:n.1565T>A
ENST00000696585.1:n.1684T>A
ENST00000696586.1:n.1458T>A
ENST00000696587.1:c.921T>A	ENSP00000512737.1:p.Ile307=
ENST00000696588.1:c.432T>A	ENSP00000513251.1:p.Ile144=
ENST00000696589.1:n.816T>A
ENST00000696590.1:n.665T>A
ENST00000696591.1:n.390T>A
ENST00000696592.1:n.1920T>A
ENST00000696627.1:c.1041T>A	ENSP00000512764.1:p.Ile347=
ENST00000696628.1:c.1041T>A	ENSP00000512765.1:p.Ile347=
ENST00000369550.10:c.1041T>A MANE Select	ENSP00000358563.5:p.Ile347=
ENST00000369550.9:c.1041T>A	ENSP00000358563.5:p.Ile347=
ENST00000412124.5:c.299T>A
ENST00000426673.5:c.401T>A
ENST00000475966.1:n.530T>A
ENST00000620277.4:c.1041T>A	ENSP00000478387.1:p.Ile347=
NM_001142463.2:c.1041T>A	NP_001135935.1:p.Ile347=
NM_001288747.1:c.1041T>A	NP_001275676.1:p.Ile347=
NM_001363.4:c.1041T>A	NP_001354.1:p.Ile347=
NR_110021.1:n.1742T>A
NR_110022.1:n.1861T>A
NR_110023.1:n.1635T>A
NM_001363.5:c.1041T>A MANE Select	NP_001354.1:p.Ile347=
NM_001142463.3:c.1041T>A	NP_001135935.1:p.Ile347=
NR_110021.2:n.1620T>A
NR_110022.2:n.1739T>A
NR_110023.2:n.1513T>A
NM_001288747.2:c.1041T>A	NP_001275676.1:p.Ile347=