Canonical Allele Identifier: CA316156826

Gene: CYP24A1

Linked Data

• dbSNP Id: rs12624440
• MyVariant Identifiers: chr20:g.52778909C>G (hg19) ; chr20:g.54162370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54162370C>G , CM000682.2:g.54162370C>G	GRCh38
NC_000020.10:g.52778909C>G , CM000682.1:g.52778909C>G	GRCh37
NC_000020.9:g.52212316C>G	NCBI36
NG_008334.1:g.16608G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216862.8:c.990+347G>C MANE Select	ENSP00000216862.3:n.990+347G>C
ENST00000216862.7:c.990+347G>C	ENSP00000216862.3:n.990+347G>C
ENST00000395954.3:c.564+347G>C	ENSP00000379284.3:n.564+347G>C
ENST00000395955.7:c.990+347G>C	ENSP00000379285.3:n.990+347G>C
NM_000782.4:c.990+347G>C	NP_000773.2:n.990+347G>C
NM_001128915.1:c.990+347G>C	NP_001122387.1:n.990+347G>C
XM_005260304.3:c.990+347G>C	XP_005260361.1:n.990+347G>C
XM_005260304.5:c.990+347G>C	XP_005260361.1:n.990+347G>C
XM_017027691.2:c.990+347G>C	XP_016883180.1:n.990+347G>C
XM_017027692.2:c.990+347G>C	XP_016883181.1:n.990+347G>C
XM_017027693.2:c.990+347G>C	XP_016883182.1:n.990+347G>C
NM_000782.5:c.990+347G>C MANE Select	NP_000773.2:n.990+347G>C
NM_001128915.2:c.990+347G>C	NP_001122387.1:n.990+347G>C