Canonical Allele Identifier: CA340454737

Gene: DHCR24

Linked Data

• MyVariant Identifiers: chr1:g.55331009G>T (hg19) ; chr1:g.54865336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54865336G>T , CM000663.2:g.54865336G>T	GRCh38
NC_000001.10:g.55331009G>T , CM000663.1:g.55331009G>T	GRCh37
NC_000001.9:g.55103597G>T	NCBI36
NG_008839.1:g.26913C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.987C>A MANE Select	ENSP00000360316.3:p.His329Gln
ENST00000436604.2:c.987C>A	ENSP00000416585.2:p.His329Gln
ENST00000535035.6:c.987C>A	ENSP00000440191.3:p.His329Gln
ENST00000647585.1:n.791C>A
ENST00000647912.1:c.*622C>A	ENSP00000497559.1:n.*622C>A
ENST00000648712.1:n.1105C>A
ENST00000648728.1:c.*642C>A	ENSP00000497084.1:n.*642C>A
ENST00000649769.1:c.*642C>A	ENSP00000498012.1:n.*642C>A
ENST00000371269.7:c.987C>A	ENSP00000360316.3:p.His329Gln
ENST00000535035.5:c.720C>A	ENSP00000440191.2:p.His240Gln
NM_014762.3:c.987C>A	NP_055577.1:p.His329Gln
NM_014762.4:c.987C>A MANE Select	NP_055577.1:p.His329Gln