Canonical Allele Identifier: CA10610460

Gene: DHCR24

Linked Data

• ClinVar Variation Id: 297642
• ClinVar RCV Id: RCV000392052
• dbSNP Id: rs886046417
• MyVariant Identifiers: chr1:g.55317472T>A (hg19) ; chr1:g.54851799T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54851799T>A , CM000663.2:g.54851799T>A	GRCh38
NC_000001.10:g.55317472T>A , CM000663.1:g.55317472T>A	GRCh37
NC_000001.9:g.55090060T>A	NCBI36
NG_008839.1:g.40450A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.*434A>T MANE Select	ENSP00000360316.3:n.*434A>T
ENST00000436604.2:c.*30+404A>T	ENSP00000416585.2:n.*30+404A>T
ENST00000535035.6:c.*434A>T	ENSP00000440191.3:n.*434A>T
ENST00000647912.1:c.*1620A>T	ENSP00000497559.1:n.*1620A>T
ENST00000648712.1:n.2103A>T
ENST00000648728.1:c.*1640A>T	ENSP00000497084.1:n.*1640A>T
ENST00000649769.1:c.*2687A>T	ENSP00000498012.1:n.*2687A>T
ENST00000371269.7:c.*434A>T	ENSP00000360316.3:n.*434A>T
ENST00000436604.1:c.493+404A>T
ENST00000535035.5:c.*434A>T	ENSP00000440191.2:n.*434A>T
NM_014762.3:c.*434A>T	NP_055577.1:n.*434A>T
NM_014762.4:c.*434A>T MANE Select	NP_055577.1:n.*434A>T