Canonical Allele Identifier: CA116779
Gene: DHCR24 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.54875134C>T
GRCh37 chr1:g.55340807C>T
Revel Score:
ENST00000371269 (MANE Select) 0.869
ENST00000537443 0.869
ENST00000535035 0.869
gnomAD v2:
1:55340807 C / T
gnomAD v3:
1:54875134 C / T
gnomAD v4:
chr1-54875134-C-T
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000004617
ClinVar Variation:
4369
dbSNP:
119475041
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54875134C>T , CM000663.2:g.54875134C>T GRCh38
NC_000001.10:g.55340807C>T , CM000663.1:g.55340807C>T GRCh37
NC_000001.9:g.55113395C>T NCBI36
NG_008839.1:g.17115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371269.9:c.571G>A MANE Select ENSP00000360316.3:p.Glu191Lys
ENST00000436604.2:c.571G>A ENSP00000416585.2:p.Glu191Lys
ENST00000535035.6:c.571G>A ENSP00000440191.3:p.Glu191Lys
ENST00000647585.1:n.375G>A
ENST00000647912.1:c.*206G>A ENSP00000497559.1:n.*206G>A
ENST00000648182.1:c.448G>A ENSP00000498045.1:p.Glu150Lys
ENST00000648641.1:n.417G>A
ENST00000648712.1:n.689G>A
ENST00000648728.1:c.*226G>A ENSP00000497084.1:n.*226G>A
ENST00000649769.1:c.*226G>A ENSP00000498012.1:n.*226G>A
ENST00000650362.1:c.304G>A ENSP00000497612.1:p.Glu102Lys
ENST00000371269.7:c.571G>A ENSP00000360316.3:p.Glu191Lys
ENST00000535035.5:c.304G>A ENSP00000440191.2:p.Glu102Lys
NM_014762.3:c.571G>A NP_055577.1:p.Glu191Lys
NM_014762.4:c.571G>A MANE Select NP_055577.1:p.Glu191Lys
Search 100 bp 5'
Search 100 bp 3'