Canonical Allele Identifier: CA10649900

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338796
• ClinVar RCV Id: RCV000333630
• dbSNP Id: rs371011704
• gnomAD v2: 20-52770563-C-T
• gnomAD v3: 20-54154024-C-T
• gnomAD v4: 20-54154024-C-T
• MyVariant Identifiers: chr20:g.52770563C>T (hg19) ; chr20:g.54154024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54154024C>T , CM000682.2:g.54154024C>T	GRCh38
NC_000020.10:g.52770563C>T , CM000682.1:g.52770563C>T	GRCh37
NC_000020.9:g.52203970C>T	NCBI36
NG_008334.1:g.24954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.*748G>A MANE Select	ENSP00000216862.3:n.*748G>A
ENST00000216862.7:c.*748G>A	ENSP00000216862.3:n.*748G>A
ENST00000395955.7:c.*748G>A	ENSP00000379285.3:n.*748G>A
NM_000782.4:c.*748G>A	NP_000773.2:n.*748G>A
NM_001128915.1:c.*748G>A	NP_001122387.1:n.*748G>A
XM_005260304.5:c.*920G>A	XP_005260361.1:n.*920G>A
XM_017027691.2:c.*768G>A	XP_016883180.1:n.*768G>A
XM_017027692.2:c.*10+3145G>A	XP_016883181.1:n.*10+3145G>A
XM_017027693.2:c.*920G>A	XP_016883182.1:n.*920G>A
NM_000782.5:c.*748G>A MANE Select	NP_000773.2:n.*748G>A
NM_001128915.2:c.*748G>A	NP_001122387.1:n.*748G>A