Canonical Allele Identifier: CA10672533
Gene: DHCR24 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.54876242T>G
GRCh37 chr1:g.55341915T>G
gnomAD v2:
1:55341915 T / G
gnomAD v3:
1:54876242 T / G
gnomAD v4:
chr1-54876242-T-G
Joint Max Group AF 0.67840475 (SAS)
Genomes Max Group AF 0.67840475 (SAS)
ClinVar RCV:
RCV001659532
ClinVar Variation:
1260254
dbSNP:
638944
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54876242T>G , CM000663.2:g.54876242T>G GRCh38
NC_000001.10:g.55341915T>G , CM000663.1:g.55341915T>G GRCh37
NC_000001.9:g.55114503T>G NCBI36
NG_008839.1:g.16007A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371269.9:c.388-195A>C MANE Select ENSP00000360316.3:n.388-195A>C
ENST00000436604.2:c.388-195A>C ENSP00000416585.2:n.388-195A>C
ENST00000535035.6:c.388-195A>C ENSP00000440191.3:n.388-195A>C
ENST00000647585.1:n.192-195A>C
ENST00000647912.1:c.*23-195A>C ENSP00000497559.1:n.*23-195A>C
ENST00000648182.1:c.265-195A>C ENSP00000498045.1:n.265-195A>C
ENST00000648494.1:n.511-195A>C
ENST00000648641.1:n.234-195A>C
ENST00000648712.1:n.506-195A>C
ENST00000648728.1:c.*43-195A>C ENSP00000497084.1:n.*43-195A>C
ENST00000649769.1:c.*43-195A>C ENSP00000498012.1:n.*43-195A>C
ENST00000650362.1:c.121-195A>C ENSP00000497612.1:n.121-195A>C
ENST00000371269.7:c.388-195A>C ENSP00000360316.3:n.388-195A>C
ENST00000535035.5:c.121-195A>C ENSP00000440191.2:n.121-195A>C
NM_014762.3:c.388-195A>C NP_055577.1:n.388-195A>C
NM_014762.4:c.388-195A>C MANE Select NP_055577.1:n.388-195A>C
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