Canonical Allele Identifier: CA10611243
Gene: DHCR24 HGNC NCBI

Linked Data

ClinVar Variation Id: 297617
ClinVar RCV Id: RCV000288846
dbSNP Id: rs7373
gnomAD v2: 1-55315611-C-G
gnomAD v3: 1-54849938-C-G
gnomAD v4: 1-54849938-C-G
MyVariant Identifiers: chr1:g.55315611C>G (hg19) chr1:g.54849938C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54849938C>G , CM000663.2:g.54849938C>G GRCh38
NC_000001.10:g.55315611C>G , CM000663.1:g.55315611C>G GRCh37
NC_000001.9:g.55088199C>G NCBI36
NG_008839.1:g.42311G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371269.9:c.*2295G>C MANE Select ENSP00000360316.3:n.*2295G>C
ENST00000535035.6:c.*2295G>C ENSP00000440191.3:n.*2295G>C
ENST00000647912.1:c.*3481G>C ENSP00000497559.1:n.*3481G>C
ENST00000648712.1:n.3964G>C
ENST00000649769.1:c.*4548G>C ENSP00000498012.1:n.*4548G>C
ENST00000371269.7:c.*2295G>C ENSP00000360316.3:n.*2295G>C
ENST00000535035.5:c.*2295G>C ENSP00000440191.2:n.*2295G>C
NM_014762.3:c.*2295G>C NP_055577.1:n.*2295G>C
NM_014762.4:c.*2295G>C MANE Select NP_055577.1:n.*2295G>C
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