Canonical Allele Identifier: CA10610135

Gene: DHCR24

Linked Data

• ClinVar Variation Id: 297643
• ClinVar RCV Id: RCV000285311
• dbSNP Id: rs146650872
• gnomAD v2: 1-55317513-C-T
• gnomAD v3: 1-54851840-C-T
• gnomAD v4: 1-54851840-C-T
• MyVariant Identifiers: chr1:g.55317513C>T (hg19) ; chr1:g.54851840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54851840C>T , CM000663.2:g.54851840C>T	GRCh38
NC_000001.10:g.55317513C>T , CM000663.1:g.55317513C>T	GRCh37
NC_000001.9:g.55090101C>T	NCBI36
NG_008839.1:g.40409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.*393G>A MANE Select	ENSP00000360316.3:n.*393G>A
ENST00000436604.2:c.*30+363G>A	ENSP00000416585.2:n.*30+363G>A
ENST00000535035.6:c.*393G>A	ENSP00000440191.3:n.*393G>A
ENST00000647912.1:c.*1579G>A	ENSP00000497559.1:n.*1579G>A
ENST00000648712.1:n.2062G>A
ENST00000648728.1:c.*1599G>A	ENSP00000497084.1:n.*1599G>A
ENST00000649769.1:c.*2646G>A	ENSP00000498012.1:n.*2646G>A
ENST00000371269.7:c.*393G>A	ENSP00000360316.3:n.*393G>A
ENST00000436604.1:c.493+363G>A
ENST00000535035.5:c.*393G>A	ENSP00000440191.2:n.*393G>A
NM_014762.3:c.*393G>A	NP_055577.1:n.*393G>A
NM_014762.4:c.*393G>A MANE Select	NP_055577.1:n.*393G>A