Canonical Allele Identifier: CA340457811

Gene: DHCR24

Linked Data

• ClinVar Variation Id: 2103333
• ClinVar RCV Id: RCV003022097
• gnomAD v4: 1-54871486-C-T
• MyVariant Identifiers: chr1:g.55337159C>T (hg19) ; chr1:g.54871486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54871486C>T , CM000663.2:g.54871486C>T	GRCh38
NC_000001.10:g.55337159C>T , CM000663.1:g.55337159C>T	GRCh37
NC_000001.9:g.55109747C>T	NCBI36
NG_008839.1:g.20763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.740G>A MANE Select	ENSP00000360316.3:p.Gly247Asp
ENST00000436604.2:c.740G>A	ENSP00000416585.2:p.Gly247Asp
ENST00000535035.6:c.740G>A	ENSP00000440191.3:p.Gly247Asp
ENST00000647585.1:n.544G>A
ENST00000647912.1:c.*375G>A	ENSP00000497559.1:n.*375G>A
ENST00000648712.1:n.858G>A
ENST00000648728.1:c.*395G>A	ENSP00000497084.1:n.*395G>A
ENST00000649769.1:c.*395G>A	ENSP00000498012.1:n.*395G>A
ENST00000371269.7:c.740G>A	ENSP00000360316.3:p.Gly247Asp
ENST00000535035.5:c.473G>A	ENSP00000440191.2:p.Gly158Asp
NM_014762.3:c.740G>A	NP_055577.1:p.Gly247Asp
NM_014762.4:c.740G>A MANE Select	NP_055577.1:p.Gly247Asp