Canonical Allele Identifier: CA10611382
Gene: DHCR24 HGNC NCBI

Linked Data

ClinVar Variation Id: 297623
ClinVar RCV Id: RCV000281973
dbSNP Id: rs654561
gnomAD v2: 1-55316082-A-C
gnomAD v3: 1-54850409-A-C
gnomAD v4: 1-54850409-A-C
MyVariant Identifiers: chr1:g.55316082A>C (hg19) chr1:g.54850409A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54850409A>C , CM000663.2:g.54850409A>C GRCh38
NC_000001.10:g.55316082A>C , CM000663.1:g.55316082A>C GRCh37
NC_000001.9:g.55088670A>C NCBI36
NG_008839.1:g.41840T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371269.9:c.*1824T>G MANE Select ENSP00000360316.3:n.*1824T>G
ENST00000535035.6:c.*1824T>G ENSP00000440191.3:n.*1824T>G
ENST00000647912.1:c.*3010T>G ENSP00000497559.1:n.*3010T>G
ENST00000648712.1:n.3493T>G
ENST00000648728.1:c.*3030T>G ENSP00000497084.1:n.*3030T>G
ENST00000649769.1:c.*4077T>G ENSP00000498012.1:n.*4077T>G
ENST00000371269.7:c.*1824T>G ENSP00000360316.3:n.*1824T>G
ENST00000535035.5:c.*1824T>G ENSP00000440191.2:n.*1824T>G
NM_014762.3:c.*1824T>G NP_055577.1:n.*1824T>G
NM_014762.4:c.*1824T>G MANE Select NP_055577.1:n.*1824T>G
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