Canonical Allele Identifier: CA10610449
Gene: DHCR24 HGNC NCBI

Linked Data

ClinVar Variation Id: 297622
ClinVar RCV Id: RCV000393469
dbSNP Id: rs757634950
gnomAD v2: 1-55316025-C-T
gnomAD v3: 1-54850352-C-T
gnomAD v4: 1-54850352-C-T
MyVariant Identifiers: chr1:g.55316025C>T (hg19) chr1:g.54850352C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54850352C>T , CM000663.2:g.54850352C>T GRCh38
NC_000001.10:g.55316025C>T , CM000663.1:g.55316025C>T GRCh37
NC_000001.9:g.55088613C>T NCBI36
NG_008839.1:g.41897G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371269.9:c.*1881G>A MANE Select ENSP00000360316.3:n.*1881G>A
ENST00000535035.6:c.*1881G>A ENSP00000440191.3:n.*1881G>A
ENST00000647912.1:c.*3067G>A ENSP00000497559.1:n.*3067G>A
ENST00000648712.1:n.3550G>A
ENST00000648728.1:c.*3087G>A ENSP00000497084.1:n.*3087G>A
ENST00000649769.1:c.*4134G>A ENSP00000498012.1:n.*4134G>A
ENST00000371269.7:c.*1881G>A ENSP00000360316.3:n.*1881G>A
ENST00000535035.5:c.*1881G>A ENSP00000440191.2:n.*1881G>A
NM_014762.3:c.*1881G>A NP_055577.1:n.*1881G>A
NM_014762.4:c.*1881G>A MANE Select NP_055577.1:n.*1881G>A
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