Canonical Allele Identifier: CA414888946
Gene: DKC1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.141G>T ENSP00000400542.2:p.Leu47Phe
ENST00000426673.6:c.141G>T ENSP00000407253.3:p.Leu47Phe
ENST00000696575.1:c.141G>T ENSP00000512730.1:p.Leu47Phe
ENST00000696576.1:n.243G>T
ENST00000696577.1:c.141G>T ENSP00000512731.1:p.Leu47Phe
ENST00000696578.1:c.141G>T ENSP00000512732.1:p.Leu47Phe
ENST00000696579.1:n.243G>T
ENST00000696580.1:c.85-407G>T ENSP00000512733.1:n.85-407G>T
ENST00000696581.1:c.*115G>T ENSP00000512734.1:n.*115G>T
ENST00000696582.1:c.141G>T ENSP00000512735.1:p.Leu47Phe
ENST00000696583.1:c.141G>T ENSP00000512736.1:p.Leu47Phe
ENST00000696584.1:n.665G>T
ENST00000696585.1:n.188G>T
ENST00000696586.1:n.188G>T
ENST00000696587.1:c.141G>T ENSP00000512737.1:p.Leu47Phe
ENST00000696588.1:c.-469G>T ENSP00000513251.1:n.-469G>T
ENST00000696627.1:c.141G>T ENSP00000512764.1:p.Leu47Phe
ENST00000696628.1:c.141G>T ENSP00000512765.1:p.Leu47Phe
ENST00000369550.10:c.141G>T MANE Select ENSP00000358563.5:p.Leu47Phe
ENST00000369550.9:c.141G>T ENSP00000358563.5:p.Leu47Phe
ENST00000413910.5:c.141G>T ENSP00000400542.1:p.Leu47Phe
ENST00000437719.5:c.97G>T
ENST00000452771.5:c.99G>T ENSP00000407325.1:p.Leu33Phe
ENST00000473552.1:n.194G>T
ENST00000620277.4:c.141G>T ENSP00000478387.1:p.Leu47Phe
NM_001142463.2:c.141G>T NP_001135935.1:p.Leu47Phe
NM_001288747.1:c.141G>T NP_001275676.1:p.Leu47Phe
NM_001363.4:c.141G>T NP_001354.1:p.Leu47Phe
NR_110021.1:n.842G>T
NR_110022.1:n.365G>T
NR_110023.1:n.365G>T
NM_001363.5:c.141G>T MANE Select NP_001354.1:p.Leu47Phe
NM_001142463.3:c.141G>T NP_001135935.1:p.Leu47Phe
NR_110021.2:n.720G>T
NR_110022.2:n.243G>T
NR_110023.2:n.243G>T
NM_001288747.2:c.141G>T NP_001275676.1:p.Leu47Phe