Canonical Allele Identifier: CA414895984

Gene: DKC1

Linked Data

• gnomAD v4: X-154773218-C-A
• MyVariant Identifiers: chrX:g.154001493C>A (hg19) ; chrX:g.154773218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773218C>A , CM000685.2:g.154773218C>A	GRCh38
NC_000023.10:g.154001493C>A , CM000685.1:g.154001493C>A	GRCh37
NC_000023.9:g.153654687C>A	NCBI36
NG_009780.1:g.15463C>A , LRG_55:g.15463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1004C>A	ENSP00000400542.2:p.Thr335Asn
ENST00000426673.6:c.*507C>A	ENSP00000407253.3:n.*507C>A
ENST00000484317.6:n.909C>A
ENST00000696575.1:c.1124C>A	ENSP00000512730.1:p.Thr375Asn
ENST00000696577.1:c.1124C>A	ENSP00000512731.1:p.Thr375Asn
ENST00000696578.1:c.*76C>A	ENSP00000512732.1:n.*76C>A
ENST00000696579.1:n.1226C>A
ENST00000696580.1:c.1037C>A	ENSP00000512733.1:p.Thr346Asn
ENST00000696581.1:c.*1098C>A	ENSP00000512734.1:n.*1098C>A
ENST00000696582.1:c.*330C>A	ENSP00000512735.1:n.*330C>A
ENST00000696583.1:c.1085C>A	ENSP00000512736.1:p.Thr362Asn
ENST00000696584.1:n.1648C>A
ENST00000696585.1:n.1767C>A
ENST00000696586.1:n.1541C>A
ENST00000696587.1:c.1004C>A	ENSP00000512737.1:p.Thr335Asn
ENST00000696588.1:c.515C>A	ENSP00000513251.1:p.Thr172Asn
ENST00000696589.1:n.899C>A
ENST00000696590.1:n.748C>A
ENST00000696591.1:n.473C>A
ENST00000696592.1:n.2003C>A
ENST00000696627.1:c.1124C>A	ENSP00000512764.1:p.Thr375Asn
ENST00000696628.1:c.1124C>A	ENSP00000512765.1:p.Thr375Asn
ENST00000369550.10:c.1124C>A MANE Select	ENSP00000358563.5:p.Thr375Asn
ENST00000369550.9:c.1124C>A	ENSP00000358563.5:p.Thr375Asn
ENST00000412124.5:c.382C>A
ENST00000426673.5:c.484C>A
ENST00000475966.1:n.613C>A
ENST00000481062.1:n.75C>A
ENST00000620277.4:c.1124C>A	ENSP00000478387.1:p.Thr375Asn
NM_001142463.2:c.1124C>A	NP_001135935.1:p.Thr375Asn
NM_001288747.1:c.1124C>A	NP_001275676.1:p.Thr375Asn
NM_001363.4:c.1124C>A	NP_001354.1:p.Thr375Asn
NR_110021.1:n.1825C>A
NR_110022.1:n.1944C>A
NR_110023.1:n.1718C>A
NM_001363.5:c.1124C>A MANE Select	NP_001354.1:p.Thr375Asn
NM_001142463.3:c.1124C>A	NP_001135935.1:p.Thr375Asn
NR_110021.2:n.1703C>A
NR_110022.2:n.1822C>A
NR_110023.2:n.1596C>A
NM_001288747.2:c.1124C>A	NP_001275676.1:p.Thr375Asn