Canonical Allele Identifier: CA870544

Gene: DHCR24

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54852368G>A , CM000663.2:g.54852368G>A	GRCh38
NC_000001.10:g.55318041G>A , CM000663.1:g.55318041G>A	GRCh37
NC_000001.9:g.55090629G>A	NCBI36
NG_008839.1:g.39881C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014762.4:c.1416C>T MANE Select	NP_055577.1:p.Ala472=
ENST00000371269.9:c.1416C>T MANE Select	ENSP00000360316.3:p.Ala472=
NM_014762.3:c.1416C>T	NP_055577.1:p.Ala472=
ENST00000371269.7:c.1416C>T	ENSP00000360316.3:p.Ala472=
ENST00000436604.1:c.328C>T
ENST00000436604.2:c.1416C>T	ENSP00000416585.2:p.Ala472=
ENST00000535035.5:c.1149C>T	ENSP00000440191.2:p.Ala383=
ENST00000535035.6:c.1452C>T	ENSP00000440191.3:p.Ala484=
ENST00000647585.1:n.1220C>T
ENST00000647912.1:c.*1051C>T	ENSP00000497559.1:n.*1051C>T
ENST00000648712.1:n.1534C>T
ENST00000648728.1:c.*1071C>T	ENSP00000497084.1:n.*1071C>T
ENST00000649769.1:c.*2118C>T	ENSP00000498012.1:n.*2118C>T