Canonical Allele Identifier: CA9916273

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338837
• ClinVar RCV Id: RCV000291145 ; RCV001511786
• dbSNP Id: rs61749689
• ExAC: 20:52790005 C / A
• gnomAD v2: 20-52790005-C-A
• gnomAD v3: 20-54173466-C-A
• gnomAD v4: 20-54173466-C-A
• MyVariant Identifiers: chr20:g.52790005C>A (hg19) ; chr20:g.54173466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54173466C>A , CM000682.2:g.54173466C>A	GRCh38
NC_000020.10:g.52790005C>A , CM000682.1:g.52790005C>A	GRCh37
NC_000020.9:g.52223412C>A	NCBI36
NG_008334.1:g.5512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.114G>T MANE Select	ENSP00000216862.3:p.Pro38=
ENST00000216862.7:c.114G>T	ENSP00000216862.3:p.Pro38=
ENST00000395955.7:c.114G>T	ENSP00000379285.3:p.Pro38=
NM_000782.4:c.114G>T	NP_000773.2:p.Pro38=
NM_001128915.1:c.114G>T	NP_001122387.1:p.Pro38=
XM_005260304.3:c.114G>T	XP_005260361.1:p.Pro38=
XM_005260304.5:c.114G>T	XP_005260361.1:p.Pro38=
XM_017027691.2:c.114G>T	XP_016883180.1:p.Pro38=
XM_017027692.2:c.114G>T	XP_016883181.1:p.Pro38=
XM_017027693.2:c.114G>T	XP_016883182.1:p.Pro38=
NM_000782.5:c.114G>T MANE Select	NP_000773.2:p.Pro38=
NM_001128915.2:c.114G>T	NP_001122387.1:p.Pro38=