Canonical Allele Identifier: CA870541

Gene: DHCR24

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54852351C>T , CM000663.2:g.54852351C>T	GRCh38
NC_000001.10:g.55318024C>T , CM000663.1:g.55318024C>T	GRCh37
NC_000001.9:g.55090612C>T	NCBI36
NG_008839.1:g.39898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.1433G>A MANE Select	ENSP00000360316.3:p.Arg478Gln
ENST00000436604.2:c.1433G>A	ENSP00000416585.2:p.Arg478Gln
ENST00000535035.6:c.1469G>A	ENSP00000440191.3:p.Arg490Gln
ENST00000647912.1:c.*1068G>A	ENSP00000497559.1:n.*1068G>A
ENST00000648712.1:n.1551G>A
ENST00000648728.1:c.*1088G>A	ENSP00000497084.1:n.*1088G>A
ENST00000649769.1:c.*2135G>A	ENSP00000498012.1:n.*2135G>A
ENST00000371269.7:c.1433G>A	ENSP00000360316.3:p.Arg478Gln
ENST00000436604.1:c.345G>A
ENST00000535035.5:c.1166G>A	ENSP00000440191.2:p.Arg389Gln
NM_014762.3:c.1433G>A	NP_055577.1:p.Arg478Gln
NM_014762.4:c.1433G>A MANE Select	NP_055577.1:p.Arg478Gln