Canonical Allele Identifier: CA414898480

Gene: DKC1

Linked Data

• ClinVar Variation Id: 434943
• ClinVar RCV Id: RCV000501902
• dbSNP Id: rs1557265435
• MyVariant Identifiers: chrX:g.154002976T>A (hg19) ; chrX:g.154774701T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774701T>A , CM000685.2:g.154774701T>A	GRCh38
NC_000023.10:g.154002976T>A , CM000685.1:g.154002976T>A	GRCh37
NC_000023.9:g.153656170T>A	NCBI36
NG_009780.1:g.16946T>A , LRG_55:g.16946T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1135T>A	ENSP00000400542.2:p.Tyr379Asn
ENST00000426673.6:c.*638T>A	ENSP00000407253.3:n.*638T>A
ENST00000484317.6:n.1040T>A
ENST00000696575.1:c.1244+11T>A	ENSP00000512730.1:n.1244+11T>A
ENST00000696577.1:c.1255T>A	ENSP00000512731.1:p.Tyr419Asn
ENST00000696578.1:c.*207T>A	ENSP00000512732.1:n.*207T>A
ENST00000696579.1:n.1357T>A
ENST00000696580.1:c.1168T>A	ENSP00000512733.1:p.Tyr390Asn
ENST00000696581.1:c.*1229T>A	ENSP00000512734.1:n.*1229T>A
ENST00000696582.1:c.*461T>A	ENSP00000512735.1:n.*461T>A
ENST00000696583.1:c.1216T>A	ENSP00000512736.1:p.Tyr406Asn
ENST00000696584.1:n.1779T>A
ENST00000696585.1:n.1898T>A
ENST00000696586.1:n.1672T>A
ENST00000696587.1:c.1135T>A	ENSP00000512737.1:p.Tyr379Asn
ENST00000696588.1:c.646T>A	ENSP00000513251.1:p.Tyr216Asn
ENST00000696589.1:n.1030T>A
ENST00000696590.1:n.879T>A
ENST00000696591.1:n.604T>A
ENST00000696592.1:n.2134T>A
ENST00000696627.1:c.*81T>A	ENSP00000512764.1:n.*81T>A
ENST00000696628.1:c.1255T>A	ENSP00000512765.1:p.Tyr419Asn
ENST00000369550.10:c.1255T>A MANE Select	ENSP00000358563.5:p.Tyr419Asn
ENST00000369550.9:c.1255T>A	ENSP00000358563.5:p.Tyr419Asn
ENST00000412124.5:c.513T>A
ENST00000426673.5:c.615T>A
ENST00000475966.1:n.744T>A
ENST00000481062.1:n.206T>A
ENST00000620277.4:c.1255T>A	ENSP00000478387.1:p.Tyr419Asn
NM_001142463.2:c.1244+11T>A	NP_001135935.1:n.1244+11T>A
NM_001288747.1:c.1255T>A	NP_001275676.1:p.Tyr419Asn
NM_001363.4:c.1255T>A	NP_001354.1:p.Tyr419Asn
NR_110021.1:n.1956T>A
NR_110022.1:n.2075T>A
NR_110023.1:n.1849T>A
NM_001363.5:c.1255T>A MANE Select	NP_001354.1:p.Tyr419Asn
NM_001142463.3:c.1244+11T>A	NP_001135935.1:n.1244+11T>A
NR_110021.2:n.1834T>A
NR_110022.2:n.1953T>A
NR_110023.2:n.1727T>A
NM_001288747.2:c.1255T>A	NP_001275676.1:p.Tyr419Asn