Canonical Allele Identifier: CA414894880

Gene: DKC1

Linked Data

• dbSNP Id: rs2071845059
• gnomAD v4: X-154773134-T-C
• MyVariant Identifiers: chrX:g.154001409T>C (hg19) ; chrX:g.154773134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773134T>C , CM000685.2:g.154773134T>C	GRCh38
NC_000023.10:g.154001409T>C , CM000685.1:g.154001409T>C	GRCh37
NC_000023.9:g.153654603T>C	NCBI36
NG_009780.1:g.15379T>C , LRG_55:g.15379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.920T>C	ENSP00000400542.2:p.Ile307Thr
ENST00000426673.6:c.*423T>C	ENSP00000407253.3:n.*423T>C
ENST00000484317.6:n.825T>C
ENST00000696575.1:c.1040T>C	ENSP00000512730.1:p.Ile347Thr
ENST00000696577.1:c.1040T>C	ENSP00000512731.1:p.Ile347Thr
ENST00000696578.1:c.919T>C	ENSP00000512732.1:p.Leu307=
ENST00000696579.1:n.1142T>C
ENST00000696580.1:c.953T>C	ENSP00000512733.1:p.Ile318Thr
ENST00000696581.1:c.*1014T>C	ENSP00000512734.1:n.*1014T>C
ENST00000696582.1:c.*246T>C	ENSP00000512735.1:n.*246T>C
ENST00000696583.1:c.1001T>C	ENSP00000512736.1:p.Ile334Thr
ENST00000696584.1:n.1564T>C
ENST00000696585.1:n.1683T>C
ENST00000696586.1:n.1457T>C
ENST00000696587.1:c.920T>C	ENSP00000512737.1:p.Ile307Thr
ENST00000696588.1:c.431T>C	ENSP00000513251.1:p.Ile144Thr
ENST00000696589.1:n.815T>C
ENST00000696590.1:n.664T>C
ENST00000696591.1:n.389T>C
ENST00000696592.1:n.1919T>C
ENST00000696627.1:c.1040T>C	ENSP00000512764.1:p.Ile347Thr
ENST00000696628.1:c.1040T>C	ENSP00000512765.1:p.Ile347Thr
ENST00000369550.10:c.1040T>C MANE Select	ENSP00000358563.5:p.Ile347Thr
ENST00000369550.9:c.1040T>C	ENSP00000358563.5:p.Ile347Thr
ENST00000412124.5:c.298T>C
ENST00000426673.5:c.400T>C
ENST00000475966.1:n.529T>C
ENST00000620277.4:c.1040T>C	ENSP00000478387.1:p.Ile347Thr
NM_001142463.2:c.1040T>C	NP_001135935.1:p.Ile347Thr
NM_001288747.1:c.1040T>C	NP_001275676.1:p.Ile347Thr
NM_001363.4:c.1040T>C	NP_001354.1:p.Ile347Thr
NR_110021.1:n.1741T>C
NR_110022.1:n.1860T>C
NR_110023.1:n.1634T>C
NM_001363.5:c.1040T>C MANE Select	NP_001354.1:p.Ile347Thr
NM_001142463.3:c.1040T>C	NP_001135935.1:p.Ile347Thr
NR_110021.2:n.1619T>C
NR_110022.2:n.1738T>C
NR_110023.2:n.1512T>C
NM_001288747.2:c.1040T>C	NP_001275676.1:p.Ile347Thr