Canonical Allele Identifier: CA22749241

Gene: DHCR24

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54854090C>T , CM000663.2:g.54854090C>T	GRCh38
NC_000001.10:g.55319763C>T , CM000663.1:g.55319763C>T	GRCh37
NC_000001.9:g.55092351C>T	NCBI36
NG_008839.1:g.38159G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014762.4:c.1165G>A MANE Select	NP_055577.1:p.Val389Met
ENST00000371269.9:c.1165G>A MANE Select	ENSP00000360316.3:p.Val389Met
NM_014762.3:c.1165G>A	NP_055577.1:p.Val389Met
ENST00000371269.7:c.1165G>A	ENSP00000360316.3:p.Val389Met
ENST00000436604.1:c.77G>A
ENST00000436604.2:c.1165G>A	ENSP00000416585.2:p.Val389Met
ENST00000535035.5:c.898G>A	ENSP00000440191.2:p.Val300Met
ENST00000535035.6:c.1201G>A	ENSP00000440191.3:p.Val401Met
ENST00000647585.1:n.969G>A
ENST00000647912.1:c.*800G>A	ENSP00000497559.1:n.*800G>A
ENST00000648712.1:n.1283G>A
ENST00000648728.1:c.*820G>A	ENSP00000497084.1:n.*820G>A
ENST00000649769.1:c.*820G>A	ENSP00000498012.1:n.*820G>A