Canonical Allele Identifier: CA519357757

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001407T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773132T>A , CM000685.2:g.154773132T>A	GRCh38
NC_000023.10:g.154001407T>A , CM000685.1:g.154001407T>A	GRCh37
NC_000023.9:g.153654601T>A	NCBI36
NG_009780.1:g.15377T>A , LRG_55:g.15377T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.918T>A	ENSP00000400542.2:p.Ala306=
ENST00000426673.6:c.*421T>A	ENSP00000407253.3:n.*421T>A
ENST00000484317.6:n.823T>A
ENST00000696575.1:c.1038T>A	ENSP00000512730.1:p.Ala346=
ENST00000696577.1:c.1038T>A	ENSP00000512731.1:p.Ala346=
ENST00000696578.1:c.917T>A	ENSP00000512732.1:p.Leu306Gln
ENST00000696579.1:n.1140T>A
ENST00000696580.1:c.951T>A	ENSP00000512733.1:p.Ala317=
ENST00000696581.1:c.*1012T>A	ENSP00000512734.1:n.*1012T>A
ENST00000696582.1:c.*244T>A	ENSP00000512735.1:n.*244T>A
ENST00000696583.1:c.999T>A	ENSP00000512736.1:p.Ala333=
ENST00000696584.1:n.1562T>A
ENST00000696585.1:n.1681T>A
ENST00000696586.1:n.1455T>A
ENST00000696587.1:c.918T>A	ENSP00000512737.1:p.Ala306=
ENST00000696588.1:c.429T>A	ENSP00000513251.1:p.Ala143=
ENST00000696589.1:n.813T>A
ENST00000696590.1:n.662T>A
ENST00000696591.1:n.387T>A
ENST00000696592.1:n.1917T>A
ENST00000696627.1:c.1038T>A	ENSP00000512764.1:p.Ala346=
ENST00000696628.1:c.1038T>A	ENSP00000512765.1:p.Ala346=
ENST00000369550.10:c.1038T>A MANE Select	ENSP00000358563.5:p.Ala346=
ENST00000369550.9:c.1038T>A	ENSP00000358563.5:p.Ala346=
ENST00000412124.5:c.296T>A
ENST00000426673.5:c.398T>A
ENST00000475966.1:n.527T>A
ENST00000620277.4:c.1038T>A	ENSP00000478387.1:p.Ala346=
NM_001142463.2:c.1038T>A	NP_001135935.1:p.Ala346=
NM_001288747.1:c.1038T>A	NP_001275676.1:p.Ala346=
NM_001363.4:c.1038T>A	NP_001354.1:p.Ala346=
NR_110021.1:n.1739T>A
NR_110022.1:n.1858T>A
NR_110023.1:n.1632T>A
NM_001363.5:c.1038T>A MANE Select	NP_001354.1:p.Ala346=
NM_001142463.3:c.1038T>A	NP_001135935.1:p.Ala346=
NR_110021.2:n.1617T>A
NR_110022.2:n.1736T>A
NR_110023.2:n.1510T>A
NM_001288747.2:c.1038T>A	NP_001275676.1:p.Ala346=