Canonical Allele Identifier: CA745616998

Gene: CYP24A1

Linked Data

• dbSNP Id: rs1210169300
• gnomAD v3: 20-54162375-G-C
• gnomAD v4: 20-54162375-G-C
• MyVariant Identifiers: chr20:g.52778914G>C (hg19) ; chr20:g.54162375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54162375G>C , CM000682.2:g.54162375G>C	GRCh38
NC_000020.10:g.52778914G>C , CM000682.1:g.52778914G>C	GRCh37
NC_000020.9:g.52212321G>C	NCBI36
NG_008334.1:g.16603C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216862.8:c.990+342C>G MANE Select	ENSP00000216862.3:n.990+342C>G
ENST00000216862.7:c.990+342C>G	ENSP00000216862.3:n.990+342C>G
ENST00000395954.3:c.564+342C>G	ENSP00000379284.3:n.564+342C>G
ENST00000395955.7:c.990+342C>G	ENSP00000379285.3:n.990+342C>G
NM_000782.4:c.990+342C>G	NP_000773.2:n.990+342C>G
NM_001128915.1:c.990+342C>G	NP_001122387.1:n.990+342C>G
XM_005260304.3:c.990+342C>G	XP_005260361.1:n.990+342C>G
XM_005260304.5:c.990+342C>G	XP_005260361.1:n.990+342C>G
XM_017027691.2:c.990+342C>G	XP_016883180.1:n.990+342C>G
XM_017027692.2:c.990+342C>G	XP_016883181.1:n.990+342C>G
XM_017027693.2:c.990+342C>G	XP_016883182.1:n.990+342C>G
NM_000782.5:c.990+342C>G MANE Select	NP_000773.2:n.990+342C>G
NM_001128915.2:c.990+342C>G	NP_001122387.1:n.990+342C>G