Canonical Allele Identifier: CA340469587

Gene: DHCR24

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54852372T>C , CM000663.2:g.54852372T>C	GRCh38
NC_000001.10:g.55318045T>C , CM000663.1:g.55318045T>C	GRCh37
NC_000001.9:g.55090633T>C	NCBI36
NG_008839.1:g.39877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.1412A>G MANE Select	ENSP00000360316.3:p.Tyr471Cys
ENST00000436604.2:c.1412A>G	ENSP00000416585.2:p.Tyr471Cys
ENST00000535035.6:c.1448A>G	ENSP00000440191.3:p.Tyr483Cys
ENST00000647585.1:n.1216A>G
ENST00000647912.1:c.*1047A>G	ENSP00000497559.1:n.*1047A>G
ENST00000648712.1:n.1530A>G
ENST00000648728.1:c.*1067A>G	ENSP00000497084.1:n.*1067A>G
ENST00000649769.1:c.*2114A>G	ENSP00000498012.1:n.*2114A>G
ENST00000371269.7:c.1412A>G	ENSP00000360316.3:p.Tyr471Cys
ENST00000436604.1:c.324A>G
ENST00000535035.5:c.1145A>G	ENSP00000440191.2:p.Tyr382Cys
NM_014762.3:c.1412A>G	NP_055577.1:p.Tyr471Cys
NM_014762.4:c.1412A>G MANE Select	NP_055577.1:p.Tyr471Cys