Canonical Allele Identifier: CA9916041
Gene: CYP24A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 338827
ClinVar RCV Id: RCV000315460 RCV000923277
dbSNP Id: rs552660376
ExAC: 20:52782318 C / T
gnomAD v2: 20-52782318-C-T
gnomAD v3: 20-54165779-C-T
gnomAD v4: 20-54165779-C-T
COSMIC: COSM1580758
MyVariant Identifiers: chr20:g.52782318C>T (hg19) chr20:g.54165779C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54165779C>T , CM000682.2:g.54165779C>T GRCh38
NC_000020.10:g.52782318C>T , CM000682.1:g.52782318C>T GRCh37
NC_000020.9:g.52215725C>T NCBI36
NG_008334.1:g.13199G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216862.8:c.695G>A MANE Select ENSP00000216862.3:p.Gly232Glu
ENST00000216862.7:c.695G>A ENSP00000216862.3:p.Gly232Glu
ENST00000395954.3:c.269G>A ENSP00000379284.3:p.Gly90Glu
ENST00000395955.7:c.695G>A ENSP00000379285.3:p.Gly232Glu
NM_000782.4:c.695G>A NP_000773.2:p.Gly232Glu
NM_001128915.1:c.695G>A NP_001122387.1:p.Gly232Glu
XM_005260304.3:c.695G>A XP_005260361.1:p.Gly232Glu
XM_005260304.5:c.695G>A XP_005260361.1:p.Gly232Glu
XM_017027691.2:c.695G>A XP_016883180.1:p.Gly232Glu
XM_017027692.2:c.695G>A XP_016883181.1:p.Gly232Glu
XM_017027693.2:c.695G>A XP_016883182.1:p.Gly232Glu
NM_000782.5:c.695G>A MANE Select NP_000773.2:p.Gly232Glu
NM_001128915.2:c.695G>A NP_001122387.1:p.Gly232Glu
Search 100 bp 5'
Search 100 bp 3'