Canonical Allele Identifier: CA10644109
Gene: CYP24A1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.54154632A>G
GRCh37 chr20:g.52771171A>G
gnomAD v2:
20:52771171 A / G
gnomAD v3:
20:54154632 A / G
gnomAD v4:
chr20-54154632-A-G
Joint Max Group AF 0.59035065 (EAS)
Genomes Max Group AF 0.58879121 (EAS)
Exomes Max Group AF 0.55532621 (EAS)
ClinVar Allele:
335832
ClinVar RCV:
RCV000396568
ClinVar Variation:
338806
dbSNP:
4809957
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54154632A>G , CM000682.2:g.54154632A>G GRCh38
NC_000020.10:g.52771171A>G , CM000682.1:g.52771171A>G GRCh37
NC_000020.9:g.52204578A>G NCBI36
NG_008334.1:g.24346T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216862.8:c.*140T>C MANE Select ENSP00000216862.3:n.*140T>C
ENST00000216862.7:c.*140T>C ENSP00000216862.3:n.*140T>C
ENST00000395955.7:c.*140T>C ENSP00000379285.3:n.*140T>C
ENST00000460643.1:n.432T>C
NM_000782.4:c.*140T>C NP_000773.2:n.*140T>C
NM_001128915.1:c.*140T>C NP_001122387.1:n.*140T>C
XM_005260304.3:c.*312T>C XP_005260361.1:n.*312T>C
XM_005260304.5:c.*312T>C XP_005260361.1:n.*312T>C
XM_017027691.2:c.*160T>C XP_016883180.1:n.*160T>C
XM_017027692.2:c.*10+2537T>C XP_016883181.1:n.*10+2537T>C
XM_017027693.2:c.*312T>C XP_016883182.1:n.*312T>C
NM_000782.5:c.*140T>C MANE Select NP_000773.2:n.*140T>C
NM_001128915.2:c.*140T>C NP_001122387.1:n.*140T>C
Search 100 bp 5'
Search 100 bp 3'