Canonical Allele Identifier: CA414898040
Community Standard Title: NM_001363.5(DKC1):c.1195G>C (p.Asp399His)
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154774641G>C , CM000685.2:g.154774641G>C GRCh38
NC_000023.10:g.154002916G>C , CM000685.1:g.154002916G>C GRCh37
NC_000023.9:g.153656110G>C NCBI36
NG_009780.1:g.16886G>C , LRG_55:g.16886G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001363.5:c.1195G>C MANE Select NP_001354.1:p.Asp399His
ENST00000369550.10:c.1195G>C MANE Select ENSP00000358563.5:p.Asp399His
NM_001142463.2:c.1195G>C NP_001135935.1:p.Asp399His
NM_001142463.3:c.1195G>C NP_001135935.1:p.Asp399His
NM_001288747.1:c.1195G>C NP_001275676.1:p.Asp399His
NM_001288747.2:c.1195G>C NP_001275676.1:p.Asp399His
NM_001363.4:c.1195G>C NP_001354.1:p.Asp399His
NR_110021.1:n.1896G>C
NR_110021.2:n.1774G>C
NR_110022.1:n.2015G>C
NR_110022.2:n.1893G>C
NR_110023.1:n.1789G>C
NR_110023.2:n.1667G>C
ENST00000369550.9:c.1195G>C ENSP00000358563.5:p.Asp399His
ENST00000412124.5:c.453G>C
ENST00000413910.6:c.1075G>C ENSP00000400542.2:p.Asp359His
ENST00000426673.5:c.555G>C
ENST00000426673.6:c.*578G>C ENSP00000407253.3:n.*578G>C
ENST00000475966.1:n.684G>C
ENST00000481062.1:n.146G>C
ENST00000484317.6:n.980G>C
ENST00000620277.4:c.1195G>C ENSP00000478387.1:p.Asp399His
ENST00000696575.1:c.1195G>C ENSP00000512730.1:p.Asp399His
ENST00000696577.1:c.1195G>C ENSP00000512731.1:p.Asp399His
ENST00000696578.1:c.*147G>C ENSP00000512732.1:n.*147G>C
ENST00000696579.1:n.1297G>C
ENST00000696580.1:c.1108G>C ENSP00000512733.1:p.Asp370His
ENST00000696581.1:c.*1169G>C ENSP00000512734.1:n.*1169G>C
ENST00000696582.1:c.*401G>C ENSP00000512735.1:n.*401G>C
ENST00000696583.1:c.1156G>C ENSP00000512736.1:p.Asp386His
ENST00000696584.1:n.1719G>C
ENST00000696585.1:n.1838G>C
ENST00000696586.1:n.1612G>C
ENST00000696587.1:c.1075G>C ENSP00000512737.1:p.Asp359His
ENST00000696588.1:c.586G>C ENSP00000513251.1:p.Asp196His
ENST00000696589.1:n.970G>C
ENST00000696590.1:n.819G>C
ENST00000696591.1:n.544G>C
ENST00000696592.1:n.2074G>C
ENST00000696627.1:c.*21G>C ENSP00000512764.1:n.*21G>C
ENST00000696628.1:c.1195G>C ENSP00000512765.1:p.Asp399His