Canonical Allele Identifier: CA10649908

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338813
• ClinVar RCV Id: RCV000331681
• dbSNP Id: rs886056786
• MyVariant Identifiers: chr20:g.52774000G>A (hg19) ; chr20:g.54157461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54157461G>A , CM000682.2:g.54157461G>A	GRCh38
NC_000020.10:g.52774000G>A , CM000682.1:g.52774000G>A	GRCh37
NC_000020.9:g.52207407G>A	NCBI36
NG_008334.1:g.21517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.1361C>T MANE Select	ENSP00000216862.3:p.Pro454Leu
ENST00000216862.7:c.1361C>T	ENSP00000216862.3:p.Pro454Leu
ENST00000395954.3:c.935C>T	ENSP00000379284.3:p.Pro312Leu
ENST00000395955.7:c.1237-172C>T	ENSP00000379285.3:n.1237-172C>T
NM_000782.4:c.1361C>T	NP_000773.2:p.Pro454Leu
NM_001128915.1:c.1237-172C>T	NP_001122387.1:n.1237-172C>T
XM_005260304.3:c.1361C>T	XP_005260361.1:p.Pro454Leu
XM_005260304.5:c.1361C>T	XP_005260361.1:p.Pro454Leu
XM_017027691.2:c.1361C>T	XP_016883180.1:p.Pro454Leu
XM_017027692.2:c.1361C>T	XP_016883181.1:p.Pro454Leu
XM_017027693.2:c.1237-172C>T	XP_016883182.1:n.1237-172C>T
NM_000782.5:c.1361C>T MANE Select	NP_000773.2:p.Pro454Leu
NM_001128915.2:c.1237-172C>T	NP_001122387.1:n.1237-172C>T