Canonical Allele Identifier: CA14854482

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 898654
• ClinVar RCV Id: RCV001142658 ; RCV001546838
• dbSNP Id: rs144737632
• gnomAD v2: 20-52790218-A-G
• gnomAD v3: 20-54173679-A-G
• gnomAD v4: 20-54173679-A-G
• MyVariant Identifiers: chr20:g.52790218A>G (hg19) ; chr20:g.54173679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54173679A>G , CM000682.2:g.54173679A>G	GRCh38
NC_000020.10:g.52790218A>G , CM000682.1:g.52790218A>G	GRCh37
NC_000020.9:g.52223625A>G	NCBI36
NG_008334.1:g.5299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.-100T>C MANE Select	ENSP00000216862.3:n.-100T>C
ENST00000216862.7:c.-100T>C	ENSP00000216862.3:n.-100T>C
NM_000782.4:c.-100T>C	NP_000773.2:n.-100T>C
NM_001128915.1:c.-100T>C	NP_001122387.1:n.-100T>C
XM_005260304.3:c.-100T>C	XP_005260361.1:n.-100T>C
XM_005260304.5:c.-100T>C	XP_005260361.1:n.-100T>C
XM_017027691.2:c.-100T>C	XP_016883180.1:n.-100T>C
XM_017027692.2:c.-100T>C	XP_016883181.1:n.-100T>C
XM_017027693.2:c.-100T>C	XP_016883182.1:n.-100T>C
NM_000782.5:c.-100T>C MANE Select	NP_000773.2:n.-100T>C
NM_001128915.2:c.-100T>C	NP_001122387.1:n.-100T>C