Canonical Allele Identifier: CA10653248

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338803
• ClinVar RCV Id: RCV000403786
• dbSNP Id: rs886056785
• gnomAD v3: 20-54154397-T-C
• gnomAD v4: 20-54154397-T-C
• MyVariant Identifiers: chr20:g.52770936T>C (hg19) ; chr20:g.54154397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54154397T>C , CM000682.2:g.54154397T>C	GRCh38
NC_000020.10:g.52770936T>C , CM000682.1:g.52770936T>C	GRCh37
NC_000020.9:g.52204343T>C	NCBI36
NG_008334.1:g.24581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.*375A>G MANE Select	ENSP00000216862.3:n.*375A>G
ENST00000216862.7:c.*375A>G	ENSP00000216862.3:n.*375A>G
ENST00000395955.7:c.*375A>G	ENSP00000379285.3:n.*375A>G
ENST00000460643.1:n.667A>G
NM_000782.4:c.*375A>G	NP_000773.2:n.*375A>G
NM_001128915.1:c.*375A>G	NP_001122387.1:n.*375A>G
XM_005260304.5:c.*547A>G	XP_005260361.1:n.*547A>G
XM_017027691.2:c.*395A>G	XP_016883180.1:n.*395A>G
XM_017027692.2:c.*10+2772A>G	XP_016883181.1:n.*10+2772A>G
XM_017027693.2:c.*547A>G	XP_016883182.1:n.*547A>G
NM_000782.5:c.*375A>G MANE Select	NP_000773.2:n.*375A>G
NM_001128915.2:c.*375A>G	NP_001122387.1:n.*375A>G