Canonical Allele Identifier: CA409391890

Gene: CYP24A1

Linked Data

• MyVariant Identifiers: chr20:g.52781008T>G (hg19) ; chr20:g.54164469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164469T>G , CM000682.2:g.54164469T>G	GRCh38
NC_000020.10:g.52781008T>G , CM000682.1:g.52781008T>G	GRCh37
NC_000020.9:g.52214415T>G	NCBI36
NG_008334.1:g.14509A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.827A>C MANE Select	ENSP00000216862.3:p.Asp276Ala
ENST00000216862.7:c.827A>C	ENSP00000216862.3:p.Asp276Ala
ENST00000395954.3:c.401A>C	ENSP00000379284.3:p.Asp134Ala
ENST00000395955.7:c.827A>C	ENSP00000379285.3:p.Asp276Ala
ENST00000487593.1:n.80A>C
NM_000782.4:c.827A>C	NP_000773.2:p.Asp276Ala
NM_001128915.1:c.827A>C	NP_001122387.1:p.Asp276Ala
XM_005260304.3:c.827A>C	XP_005260361.1:p.Asp276Ala
XM_005260304.5:c.827A>C	XP_005260361.1:p.Asp276Ala
XM_017027691.2:c.827A>C	XP_016883180.1:p.Asp276Ala
XM_017027692.2:c.827A>C	XP_016883181.1:p.Asp276Ala
XM_017027693.2:c.827A>C	XP_016883182.1:p.Asp276Ala
NM_000782.5:c.827A>C MANE Select	NP_000773.2:p.Asp276Ala
NM_001128915.2:c.827A>C	NP_001122387.1:p.Asp276Ala