Canonical Allele Identifier: CA340451640

Gene: DHCR24

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54854051G>A , CM000663.2:g.54854051G>A	GRCh38
NC_000001.10:g.55319724G>A , CM000663.1:g.55319724G>A	GRCh37
NC_000001.9:g.55092312G>A	NCBI36
NG_008839.1:g.38198C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014762.4:c.1204C>T MANE Select	NP_055577.1:p.Gln402Ter
ENST00000371269.9:c.1204C>T MANE Select	ENSP00000360316.3:p.Gln402Ter
NM_014762.3:c.1204C>T	NP_055577.1:p.Gln402Ter
ENST00000371269.7:c.1204C>T	ENSP00000360316.3:p.Gln402Ter
ENST00000436604.1:c.116C>T
ENST00000436604.2:c.1204C>T	ENSP00000416585.2:p.Gln402Ter
ENST00000535035.5:c.937C>T	ENSP00000440191.2:p.Gln313Ter
ENST00000535035.6:c.1240C>T	ENSP00000440191.3:p.Gln414Ter
ENST00000647585.1:n.1008C>T
ENST00000647912.1:c.*839C>T	ENSP00000497559.1:n.*839C>T
ENST00000648712.1:n.1322C>T
ENST00000648728.1:c.*859C>T	ENSP00000497084.1:n.*859C>T
ENST00000649769.1:c.*859C>T	ENSP00000498012.1:n.*859C>T