Canonical Allele Identifier: CA10653251

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338808
• ClinVar RCV Id: RCV000362924
• dbSNP Id: rs16999067
• gnomAD v2: 20-52771234-A-C
• gnomAD v3: 20-54154695-A-C
• gnomAD v4: 20-54154695-A-C
• MyVariant Identifiers: chr20:g.52771234A>C (hg19) ; chr20:g.54154695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54154695A>C , CM000682.2:g.54154695A>C	GRCh38
NC_000020.10:g.52771234A>C , CM000682.1:g.52771234A>C	GRCh37
NC_000020.9:g.52204641A>C	NCBI36
NG_008334.1:g.24283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.*77T>G MANE Select	ENSP00000216862.3:n.*77T>G
ENST00000216862.7:c.*77T>G	ENSP00000216862.3:n.*77T>G
ENST00000395955.7:c.*77T>G	ENSP00000379285.3:n.*77T>G
ENST00000460643.1:n.369T>G
NM_000782.4:c.*77T>G	NP_000773.2:n.*77T>G
NM_001128915.1:c.*77T>G	NP_001122387.1:n.*77T>G
XM_005260304.3:c.*249T>G	XP_005260361.1:n.*249T>G
XM_005260304.5:c.*249T>G	XP_005260361.1:n.*249T>G
XM_017027691.2:c.*97T>G	XP_016883180.1:n.*97T>G
XM_017027692.2:c.*10+2474T>G	XP_016883181.1:n.*10+2474T>G
XM_017027693.2:c.*249T>G	XP_016883182.1:n.*249T>G
NM_000782.5:c.*77T>G MANE Select	NP_000773.2:n.*77T>G
NM_001128915.2:c.*77T>G	NP_001122387.1:n.*77T>G