Canonical Allele Identifier: CA409392339

Gene: CYP24A1

Linked Data

• dbSNP Id: rs2146502281
• MyVariant Identifiers: chr20:g.52786134C>T (hg19) ; chr20:g.54169595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54169595C>T , CM000682.2:g.54169595C>T	GRCh38
NC_000020.10:g.52786134C>T , CM000682.1:g.52786134C>T	GRCh37
NC_000020.9:g.52219541C>T	NCBI36
NG_008334.1:g.9383G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216862.8:c.637G>A MANE Select	ENSP00000216862.3:p.Glu213Lys
ENST00000216862.7:c.637G>A	ENSP00000216862.3:p.Glu213Lys
ENST00000395954.3:c.211G>A	ENSP00000379284.3:p.Glu71Lys
ENST00000395955.7:c.637G>A	ENSP00000379285.3:p.Glu213Lys
NM_000782.4:c.637G>A	NP_000773.2:p.Glu213Lys
NM_001128915.1:c.637G>A	NP_001122387.1:p.Glu213Lys
XM_005260304.3:c.637G>A	XP_005260361.1:p.Glu213Lys
XM_005260304.5:c.637G>A	XP_005260361.1:p.Glu213Lys
XM_017027691.2:c.637G>A	XP_016883180.1:p.Glu213Lys
XM_017027692.2:c.637G>A	XP_016883181.1:p.Glu213Lys
XM_017027693.2:c.637G>A	XP_016883182.1:p.Glu213Lys
NM_000782.5:c.637G>A MANE Select	NP_000773.2:p.Glu213Lys
NM_001128915.2:c.637G>A	NP_001122387.1:p.Glu213Lys