Canonical Allele Identifier: CA316157224

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 1182961
• ClinVar RCV Id: RCV001540705
• dbSNP Id: rs11906115
• gnomAD v2: 20-52780912-A-G
• gnomAD v3: 20-54164373-A-G
• gnomAD v4: 20-54164373-A-G
• MyVariant Identifiers: chr20:g.52780912A>G (hg19) ; chr20:g.54164373A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164373A>G , CM000682.2:g.54164373A>G	GRCh38
NC_000020.10:g.52780912A>G , CM000682.1:g.52780912A>G	GRCh37
NC_000020.9:g.52214319A>G	NCBI36
NG_008334.1:g.14605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.844+79T>C MANE Select	ENSP00000216862.3:n.844+79T>C
ENST00000216862.7:c.844+79T>C	ENSP00000216862.3:n.844+79T>C
ENST00000395954.3:c.418+79T>C	ENSP00000379284.3:n.418+79T>C
ENST00000395955.7:c.844+79T>C	ENSP00000379285.3:n.844+79T>C
ENST00000487593.1:n.97+79T>C
NM_000782.4:c.844+79T>C	NP_000773.2:n.844+79T>C
NM_001128915.1:c.844+79T>C	NP_001122387.1:n.844+79T>C
XM_005260304.3:c.844+79T>C	XP_005260361.1:n.844+79T>C
XM_005260304.5:c.844+79T>C	XP_005260361.1:n.844+79T>C
XM_017027691.2:c.844+79T>C	XP_016883180.1:n.844+79T>C
XM_017027692.2:c.844+79T>C	XP_016883181.1:n.844+79T>C
XM_017027693.2:c.844+79T>C	XP_016883182.1:n.844+79T>C
NM_000782.5:c.844+79T>C MANE Select	NP_000773.2:n.844+79T>C
NM_001128915.2:c.844+79T>C	NP_001122387.1:n.844+79T>C