Canonical Allele Identifier: CA519352047

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153993775G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765500G>A , CM000685.2:g.154765500G>A	GRCh38
NC_000023.10:g.153993775G>A , CM000685.1:g.153993775G>A	GRCh37
NC_000023.9:g.153646969G>A	NCBI36
NG_009780.1:g.7745G>A , LRG_55:g.7745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.141G>A	ENSP00000400542.2:p.Leu47=
ENST00000426673.6:c.141G>A	ENSP00000407253.3:p.Leu47=
ENST00000696575.1:c.141G>A	ENSP00000512730.1:p.Leu47=
ENST00000696576.1:n.243G>A
ENST00000696577.1:c.141G>A	ENSP00000512731.1:p.Leu47=
ENST00000696578.1:c.141G>A	ENSP00000512732.1:p.Leu47=
ENST00000696579.1:n.243G>A
ENST00000696580.1:c.85-407G>A	ENSP00000512733.1:n.85-407G>A
ENST00000696581.1:c.*115G>A	ENSP00000512734.1:n.*115G>A
ENST00000696582.1:c.141G>A	ENSP00000512735.1:p.Leu47=
ENST00000696583.1:c.141G>A	ENSP00000512736.1:p.Leu47=
ENST00000696584.1:n.665G>A
ENST00000696585.1:n.188G>A
ENST00000696586.1:n.188G>A
ENST00000696587.1:c.141G>A	ENSP00000512737.1:p.Leu47=
ENST00000696588.1:c.-469G>A	ENSP00000513251.1:n.-469G>A
ENST00000696627.1:c.141G>A	ENSP00000512764.1:p.Leu47=
ENST00000696628.1:c.141G>A	ENSP00000512765.1:p.Leu47=
ENST00000369550.10:c.141G>A MANE Select	ENSP00000358563.5:p.Leu47=
ENST00000369550.9:c.141G>A	ENSP00000358563.5:p.Leu47=
ENST00000413910.5:c.141G>A	ENSP00000400542.1:p.Leu47=
ENST00000437719.5:c.97G>A
ENST00000452771.5:c.99G>A	ENSP00000407325.1:p.Leu33=
ENST00000473552.1:n.194G>A
ENST00000620277.4:c.141G>A	ENSP00000478387.1:p.Leu47=
NM_001142463.2:c.141G>A	NP_001135935.1:p.Leu47=
NM_001288747.1:c.141G>A	NP_001275676.1:p.Leu47=
NM_001363.4:c.141G>A	NP_001354.1:p.Leu47=
NR_110021.1:n.842G>A
NR_110022.1:n.365G>A
NR_110023.1:n.365G>A
NM_001363.5:c.141G>A MANE Select	NP_001354.1:p.Leu47=
NM_001142463.3:c.141G>A	NP_001135935.1:p.Leu47=
NR_110021.2:n.720G>A
NR_110022.2:n.243G>A
NR_110023.2:n.243G>A
NM_001288747.2:c.141G>A	NP_001275676.1:p.Leu47=