Canonical Allele Identifier: CA2370272007

Gene: CYP24A1

Linked Data

• dbSNP Id: rs1601152842
• gnomAD v3: 20-54173657-C-T
• gnomAD v4: 20-54173657-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54173657C>T , CM000682.2:g.54173657C>T	GRCh38
NC_000020.10:g.52790196C>T , CM000682.1:g.52790196C>T	GRCh37
NC_000020.9:g.52223603C>T	NCBI36
NG_008334.1:g.5321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.-78G>A MANE Select	ENSP00000216862.3:n.-78G>A
ENST00000216862.7:c.-78G>A	ENSP00000216862.3:n.-78G>A
NM_000782.4:c.-78G>A	NP_000773.2:n.-78G>A
NM_001128915.1:c.-78G>A	NP_001122387.1:n.-78G>A
XM_005260304.3:c.-78G>A	XP_005260361.1:n.-78G>A
XM_005260304.5:c.-78G>A	XP_005260361.1:n.-78G>A
XM_017027691.2:c.-78G>A	XP_016883180.1:n.-78G>A
XM_017027692.2:c.-78G>A	XP_016883181.1:n.-78G>A
XM_017027693.2:c.-78G>A	XP_016883182.1:n.-78G>A
NM_000782.5:c.-78G>A MANE Select	NP_000773.2:n.-78G>A
NM_001128915.2:c.-78G>A	NP_001122387.1:n.-78G>A