Canonical Allele Identifier: CA116778

Gene: DHCR24

Linked Data

• ClinVar Variation Id: 4367
• ClinVar RCV Id: RCV000004615
• dbSNP Id: rs28939092
• gnomAD v2: 1-55318045-T-G
• gnomAD v4: 1-54852372-T-G
• MyVariant Identifiers: chr1:g.55318045T>G (hg19) ; chr1:g.54852372T>G (hg38)
• PubMed: PMID:11519011

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