Canonical Allele Identifier: CA409391853

Gene: CYP24A1

Linked Data

• MyVariant Identifiers: chr20:g.52780991C>A (hg19) ; chr20:g.54164452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164452C>A , CM000682.2:g.54164452C>A	GRCh38
NC_000020.10:g.52780991C>A , CM000682.1:g.52780991C>A	GRCh37
NC_000020.9:g.52214398C>A	NCBI36
NG_008334.1:g.14526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.844G>T MANE Select	ENSP00000216862.3:p.Val282Phe
ENST00000216862.7:c.844G>T	ENSP00000216862.3:p.Val282Phe
ENST00000395954.3:c.418G>T	ENSP00000379284.3:p.Val140Phe
ENST00000395955.7:c.844G>T	ENSP00000379285.3:p.Val282Phe
ENST00000487593.1:n.97G>T
NM_000782.4:c.844G>T	NP_000773.2:p.Val282Phe
NM_001128915.1:c.844G>T	NP_001122387.1:p.Val282Phe
XM_005260304.3:c.844G>T	XP_005260361.1:p.Val282Phe
XM_005260304.5:c.844G>T	XP_005260361.1:p.Val282Phe
XM_017027691.2:c.844G>T	XP_016883180.1:p.Val282Phe
XM_017027692.2:c.844G>T	XP_016883181.1:p.Val282Phe
XM_017027693.2:c.844G>T	XP_016883182.1:p.Val282Phe
NM_000782.5:c.844G>T MANE Select	NP_000773.2:p.Val282Phe
NM_001128915.2:c.844G>T	NP_001122387.1:p.Val282Phe