Canonical Allele Identifier: CA10610463

Gene: DHCR24

Linked Data

• ClinVar Variation Id: 297650
• ClinVar RCV Id: RCV000370885
• dbSNP Id: rs886046420
• gnomAD v3: 1-54852061-T-C
• gnomAD v4: 1-54852061-T-C
• MyVariant Identifiers: chr1:g.55317734T>C (hg19) ; chr1:g.54852061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54852061T>C , CM000663.2:g.54852061T>C	GRCh38
NC_000001.10:g.55317734T>C , CM000663.1:g.55317734T>C	GRCh37
NC_000001.9:g.55090322T>C	NCBI36
NG_008839.1:g.40188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.*172A>G MANE Select	ENSP00000360316.3:n.*172A>G
ENST00000436604.2:c.*30+142A>G	ENSP00000416585.2:n.*30+142A>G
ENST00000535035.6:c.*172A>G	ENSP00000440191.3:n.*172A>G
ENST00000647912.1:c.*1358A>G	ENSP00000497559.1:n.*1358A>G
ENST00000648712.1:n.1841A>G
ENST00000648728.1:c.*1378A>G	ENSP00000497084.1:n.*1378A>G
ENST00000649769.1:c.*2425A>G	ENSP00000498012.1:n.*2425A>G
ENST00000371269.7:c.*172A>G	ENSP00000360316.3:n.*172A>G
ENST00000436604.1:c.493+142A>G
ENST00000535035.5:c.*172A>G	ENSP00000440191.2:n.*172A>G
NM_014762.3:c.*172A>G	NP_055577.1:n.*172A>G
NM_014762.4:c.*172A>G MANE Select	NP_055577.1:n.*172A>G