Canonical Allele Identifier: CA414891106

Gene: DKC1

Linked Data

• gnomAD v4: X-154769183-T-C
• MyVariant Identifiers: chrX:g.153997458T>C (hg19) ; chrX:g.154769183T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769183T>C , CM000685.2:g.154769183T>C	GRCh38
NC_000023.10:g.153997458T>C , CM000685.1:g.153997458T>C	GRCh37
NC_000023.9:g.153650652T>C	NCBI36
NG_009780.1:g.11428T>C , LRG_55:g.11428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.668T>C	ENSP00000400542.2:p.Met223Thr
ENST00000426673.6:c.*171T>C	ENSP00000407253.3:n.*171T>C
ENST00000484317.6:n.573T>C
ENST00000696575.1:c.788T>C	ENSP00000512730.1:p.Met263Thr
ENST00000696576.1:n.890T>C
ENST00000696577.1:c.788T>C	ENSP00000512731.1:p.Met263Thr
ENST00000696578.1:c.788T>C	ENSP00000512732.1:p.Met263Thr
ENST00000696579.1:n.890T>C
ENST00000696580.1:c.701T>C	ENSP00000512733.1:p.Met234Thr
ENST00000696581.1:c.*762T>C	ENSP00000512734.1:n.*762T>C
ENST00000696582.1:c.657T>C	ENSP00000512735.1:p.Asn219=
ENST00000696583.1:c.772-23T>C	ENSP00000512736.1:n.772-23T>C
ENST00000696584.1:n.1312T>C
ENST00000696585.1:n.1431T>C
ENST00000696586.1:n.1205T>C
ENST00000696587.1:c.668T>C	ENSP00000512737.1:p.Met223Thr
ENST00000696588.1:c.179T>C	ENSP00000513251.1:p.Met60Thr
ENST00000696589.1:n.563T>C
ENST00000696590.1:n.412T>C
ENST00000696591.1:n.137T>C
ENST00000696627.1:c.788T>C	ENSP00000512764.1:p.Met263Thr
ENST00000696628.1:c.788T>C	ENSP00000512765.1:p.Met263Thr
ENST00000369550.10:c.788T>C MANE Select	ENSP00000358563.5:p.Met263Thr
ENST00000369550.9:c.788T>C	ENSP00000358563.5:p.Met263Thr
ENST00000412124.5:c.174-1576T>C
ENST00000413910.5:c.668T>C	ENSP00000400542.1:p.Met223Thr
ENST00000426673.5:c.148T>C
ENST00000452771.5:c.681T>C	ENSP00000407325.1:n.681T>C
ENST00000475966.1:n.277T>C
ENST00000484317.5:n.426T>C
ENST00000620277.4:c.788T>C	ENSP00000478387.1:p.Met263Thr
NM_001142463.2:c.788T>C	NP_001135935.1:p.Met263Thr
NM_001288747.1:c.788T>C	NP_001275676.1:p.Met263Thr
NM_001363.4:c.788T>C	NP_001354.1:p.Met263Thr
NR_110021.1:n.1489T>C
NR_110022.1:n.1608T>C
NR_110023.1:n.1382T>C
NM_001363.5:c.788T>C MANE Select	NP_001354.1:p.Met263Thr
NM_001142463.3:c.788T>C	NP_001135935.1:p.Met263Thr
NR_110021.2:n.1367T>C
NR_110022.2:n.1486T>C
NR_110023.2:n.1260T>C
NM_001288747.2:c.788T>C	NP_001275676.1:p.Met263Thr