Canonical Allele Identifier: CA414896252

Gene: DKC1

Linked Data

• gnomAD v4: X-154773250-G-A
• MyVariant Identifiers: chrX:g.154001525G>A (hg19) ; chrX:g.154773250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773250G>A , CM000685.2:g.154773250G>A	GRCh38
NC_000023.10:g.154001525G>A , CM000685.1:g.154001525G>A	GRCh37
NC_000023.9:g.153654719G>A	NCBI36
NG_009780.1:g.15495G>A , LRG_55:g.15495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+1G>A	ENSP00000400542.2:n.1035+1G>A
ENST00000426673.6:c.*538+1G>A	ENSP00000407253.3:n.*538+1G>A
ENST00000484317.6:n.940+1G>A
ENST00000696575.1:c.1155+1G>A	ENSP00000512730.1:n.1155+1G>A
ENST00000696577.1:c.1155+1G>A	ENSP00000512731.1:n.1155+1G>A
ENST00000696578.1:c.*107+1G>A	ENSP00000512732.1:n.*107+1G>A
ENST00000696579.1:n.1257+1G>A
ENST00000696580.1:c.1068+1G>A	ENSP00000512733.1:n.1068+1G>A
ENST00000696581.1:c.*1129+1G>A	ENSP00000512734.1:n.*1129+1G>A
ENST00000696582.1:c.*361+1G>A	ENSP00000512735.1:n.*361+1G>A
ENST00000696583.1:c.1116+1G>A	ENSP00000512736.1:n.1116+1G>A
ENST00000696584.1:n.1679+1G>A
ENST00000696585.1:n.1798+1G>A
ENST00000696586.1:n.1572+1G>A
ENST00000696587.1:c.1035+1G>A	ENSP00000512737.1:n.1035+1G>A
ENST00000696588.1:c.546+1G>A	ENSP00000513251.1:n.546+1G>A
ENST00000696589.1:n.930+1G>A
ENST00000696590.1:n.779+1G>A
ENST00000696591.1:n.504+1G>A
ENST00000696592.1:n.2034+1G>A
ENST00000696627.1:c.1156G>A	ENSP00000512764.1:p.Val386Ile
ENST00000696628.1:c.1155+1G>A	ENSP00000512765.1:n.1155+1G>A
ENST00000369550.10:c.1155+1G>A MANE Select	ENSP00000358563.5:n.1155+1G>A
ENST00000369550.9:c.1155+1G>A	ENSP00000358563.5:n.1155+1G>A
ENST00000412124.5:c.413+1G>A
ENST00000426673.5:c.515+1G>A
ENST00000475966.1:n.644+1G>A
ENST00000481062.1:n.106+1G>A
ENST00000620277.4:c.1155+1G>A	ENSP00000478387.1:n.1155+1G>A
NM_001142463.2:c.1155+1G>A	NP_001135935.1:n.1155+1G>A
NM_001288747.1:c.1155+1G>A	NP_001275676.1:n.1155+1G>A
NM_001363.4:c.1155+1G>A	NP_001354.1:n.1155+1G>A
NR_110021.1:n.1856+1G>A
NR_110022.1:n.1975+1G>A
NR_110023.1:n.1749+1G>A
NM_001363.5:c.1155+1G>A MANE Select	NP_001354.1:n.1155+1G>A
NM_001142463.3:c.1155+1G>A	NP_001135935.1:n.1155+1G>A
NR_110021.2:n.1734+1G>A
NR_110022.2:n.1853+1G>A
NR_110023.2:n.1627+1G>A
NM_001288747.2:c.1155+1G>A	NP_001275676.1:n.1155+1G>A