Canonical Allele Identifier: CA116778
Gene: DHCR24 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.54852372T>G
GRCh37 chr1:g.55318045T>G
Revel Score:
ENST00000539536 0.908
ENST00000371269 (MANE Select) 0.908
ENST00000537443 0.908
ENST00000535035 0.908
gnomAD v2:
1:55318045 T / G
gnomAD v4:
chr1-54852372-T-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000004615
ClinVar Variation:
4367
dbSNP:
28939092
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54852372T>G , CM000663.2:g.54852372T>G GRCh38
NC_000001.10:g.55318045T>G , CM000663.1:g.55318045T>G GRCh37
NC_000001.9:g.55090633T>G NCBI36
NG_008839.1:g.39877A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371269.9:c.1412A>C MANE Select ENSP00000360316.3:p.Tyr471Ser
ENST00000436604.2:c.1412A>C ENSP00000416585.2:p.Tyr471Ser
ENST00000535035.6:c.1448A>C ENSP00000440191.3:p.Tyr483Ser
ENST00000647585.1:n.1216A>C
ENST00000647912.1:c.*1047A>C ENSP00000497559.1:n.*1047A>C
ENST00000648712.1:n.1530A>C
ENST00000648728.1:c.*1067A>C ENSP00000497084.1:n.*1067A>C
ENST00000649769.1:c.*2114A>C ENSP00000498012.1:n.*2114A>C
ENST00000371269.7:c.1412A>C ENSP00000360316.3:p.Tyr471Ser
ENST00000436604.1:c.324A>C
ENST00000535035.5:c.1145A>C ENSP00000440191.2:p.Tyr382Ser
NM_014762.3:c.1412A>C NP_055577.1:p.Tyr471Ser
NM_014762.4:c.1412A>C MANE Select NP_055577.1:p.Tyr471Ser
Search 100 bp 5'
Search 100 bp 3'