Canonical Allele Identifier: CA870785

Gene: DHCR24

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54875134C>G , CM000663.2:g.54875134C>G	GRCh38
NC_000001.10:g.55340807C>G , CM000663.1:g.55340807C>G	GRCh37
NC_000001.9:g.55113395C>G	NCBI36
NG_008839.1:g.17115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.571G>C MANE Select	ENSP00000360316.3:p.Glu191Gln
ENST00000436604.2:c.571G>C	ENSP00000416585.2:p.Glu191Gln
ENST00000535035.6:c.571G>C	ENSP00000440191.3:p.Glu191Gln
ENST00000647585.1:n.375G>C
ENST00000647912.1:c.*206G>C	ENSP00000497559.1:n.*206G>C
ENST00000648182.1:c.448G>C	ENSP00000498045.1:p.Glu150Gln
ENST00000648641.1:n.417G>C
ENST00000648712.1:n.689G>C
ENST00000648728.1:c.*226G>C	ENSP00000497084.1:n.*226G>C
ENST00000649769.1:c.*226G>C	ENSP00000498012.1:n.*226G>C
ENST00000650362.1:c.304G>C	ENSP00000497612.1:p.Glu102Gln
ENST00000371269.7:c.571G>C	ENSP00000360316.3:p.Glu191Gln
ENST00000535035.5:c.304G>C	ENSP00000440191.2:p.Glu102Gln
NM_014762.3:c.571G>C	NP_055577.1:p.Glu191Gln
NM_014762.4:c.571G>C MANE Select	NP_055577.1:p.Glu191Gln