Canonical Allele Identifier: CA14811045
Gene: CYP24A1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.54164712G>C
GRCh37 chr20:g.52781251G>C
gnomAD v2:
20:52781251 G / C
gnomAD v3:
20:54164712 G / C
gnomAD v4:
chr20-54164712-G-C
Joint Max Group AF 0.55733114 (AFR)
Genomes Max Group AF 0.55299214 (AFR)
Exomes Max Group AF 0.55879357 (AFR)
ClinVar Allele:
1287675
ClinVar RCV:
RCV001725395
ClinVar Variation:
1297888
dbSNP:
2762939
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54164712G>C , CM000682.2:g.54164712G>C GRCh38
NC_000020.10:g.52781251G>C , CM000682.1:g.52781251G>C GRCh37
NC_000020.9:g.52214658G>C NCBI36
NG_008334.1:g.14266C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216862.8:c.733-149C>G MANE Select ENSP00000216862.3:n.733-149C>G
ENST00000216862.7:c.733-149C>G ENSP00000216862.3:n.733-149C>G
ENST00000395954.3:c.307-149C>G ENSP00000379284.3:n.307-149C>G
ENST00000395955.7:c.733-149C>G ENSP00000379285.3:n.733-149C>G
NM_000782.4:c.733-149C>G NP_000773.2:n.733-149C>G
NM_001128915.1:c.733-149C>G NP_001122387.1:n.733-149C>G
XM_005260304.3:c.733-149C>G XP_005260361.1:n.733-149C>G
XM_005260304.5:c.733-149C>G XP_005260361.1:n.733-149C>G
XM_017027691.2:c.733-149C>G XP_016883180.1:n.733-149C>G
XM_017027692.2:c.733-149C>G XP_016883181.1:n.733-149C>G
XM_017027693.2:c.733-149C>G XP_016883182.1:n.733-149C>G
NM_000782.5:c.733-149C>G MANE Select NP_000773.2:n.733-149C>G
NM_001128915.2:c.733-149C>G NP_001122387.1:n.733-149C>G
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