Canonical Allele Identifier: CA870513
Gene: DHCR24 HGNC NCBI

Linked Data

ClinVar Variation Id: 297652
ClinVar RCV Id: RCV000331861
dbSNP Id: rs200380515
ExAC: 1:55317864 C / T
gnomAD v2: 1-55317864-C-T
gnomAD v3: 1-54852191-C-T
gnomAD v4: 1-54852191-C-T
MyVariant Identifiers: chr1:g.55317864C>T (hg19) chr1:g.54852191C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54852191C>T , CM000663.2:g.54852191C>T GRCh38
NC_000001.10:g.55317864C>T , CM000663.1:g.55317864C>T GRCh37
NC_000001.9:g.55090452C>T NCBI36
NG_008839.1:g.40058G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371269.9:c.*42G>A MANE Select ENSP00000360316.3:n.*42G>A
ENST00000436604.2:c.*30+12G>A ENSP00000416585.2:n.*30+12G>A
ENST00000535035.6:c.*42G>A ENSP00000440191.3:n.*42G>A
ENST00000647912.1:c.*1228G>A ENSP00000497559.1:n.*1228G>A
ENST00000648712.1:n.1711G>A
ENST00000648728.1:c.*1248G>A ENSP00000497084.1:n.*1248G>A
ENST00000649769.1:c.*2295G>A ENSP00000498012.1:n.*2295G>A
ENST00000371269.7:c.*42G>A ENSP00000360316.3:n.*42G>A
ENST00000436604.1:c.493+12G>A
ENST00000535035.5:c.*42G>A ENSP00000440191.2:n.*42G>A
NM_014762.3:c.*42G>A NP_055577.1:n.*42G>A
NM_014762.4:c.*42G>A MANE Select NP_055577.1:n.*42G>A
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