Canonical Allele Identifier: CA10610459

Gene: DHCR24

Linked Data

• ClinVar Variation Id: 297638
• ClinVar RCV Id: RCV000319104
• dbSNP Id: rs57714270
• gnomAD v2: 1-55317329-G-A
• gnomAD v3: 1-54851656-G-A
• gnomAD v4: 1-54851656-G-A
• MyVariant Identifiers: chr1:g.55317329G>A (hg19) ; chr1:g.54851656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54851656G>A , CM000663.2:g.54851656G>A	GRCh38
NC_000001.10:g.55317329G>A , CM000663.1:g.55317329G>A	GRCh37
NC_000001.9:g.55089917G>A	NCBI36
NG_008839.1:g.40593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.*577C>T MANE Select	ENSP00000360316.3:n.*577C>T
ENST00000436604.2:c.*31-411C>T	ENSP00000416585.2:n.*31-411C>T
ENST00000535035.6:c.*577C>T	ENSP00000440191.3:n.*577C>T
ENST00000647912.1:c.*1763C>T	ENSP00000497559.1:n.*1763C>T
ENST00000648712.1:n.2246C>T
ENST00000648728.1:c.*1783C>T	ENSP00000497084.1:n.*1783C>T
ENST00000649769.1:c.*2830C>T	ENSP00000498012.1:n.*2830C>T
ENST00000371269.7:c.*577C>T	ENSP00000360316.3:n.*577C>T
ENST00000436604.1:c.494-411C>T
ENST00000535035.5:c.*577C>T	ENSP00000440191.2:n.*577C>T
NM_014762.3:c.*577C>T	NP_055577.1:n.*577C>T
NM_014762.4:c.*577C>T MANE Select	NP_055577.1:n.*577C>T