Canonical Allele Identifier: CA10652652

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338807
• ClinVar RCV Id: RCV000310375
• dbSNP Id: rs560443324
• gnomAD v2: 20-52771231-T-C
• gnomAD v3: 20-54154692-T-C
• gnomAD v4: 20-54154692-T-C
• MyVariant Identifiers: chr20:g.52771231T>C (hg19) ; chr20:g.54154692T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54154692T>C , CM000682.2:g.54154692T>C	GRCh38
NC_000020.10:g.52771231T>C , CM000682.1:g.52771231T>C	GRCh37
NC_000020.9:g.52204638T>C	NCBI36
NG_008334.1:g.24286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.*80A>G MANE Select	ENSP00000216862.3:n.*80A>G
ENST00000216862.7:c.*80A>G	ENSP00000216862.3:n.*80A>G
ENST00000395955.7:c.*80A>G	ENSP00000379285.3:n.*80A>G
ENST00000460643.1:n.372A>G
NM_000782.4:c.*80A>G	NP_000773.2:n.*80A>G
NM_001128915.1:c.*80A>G	NP_001122387.1:n.*80A>G
XM_005260304.3:c.*252A>G	XP_005260361.1:n.*252A>G
XM_005260304.5:c.*252A>G	XP_005260361.1:n.*252A>G
XM_017027691.2:c.*100A>G	XP_016883180.1:n.*100A>G
XM_017027692.2:c.*10+2477A>G	XP_016883181.1:n.*10+2477A>G
XM_017027693.2:c.*252A>G	XP_016883182.1:n.*252A>G
NM_000782.5:c.*80A>G MANE Select	NP_000773.2:n.*80A>G
NM_001128915.2:c.*80A>G	NP_001122387.1:n.*80A>G