Canonical Allele Identifier: CA2594555991

Gene: CYP24A1

Linked Data

• dbSNP Id: rs2146485128
• gnomAD v3: 20-54164335-T-G
• gnomAD v4: 20-54164335-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164335T>G , CM000682.2:g.54164335T>G	GRCh38
NC_000020.10:g.52780874T>G , CM000682.1:g.52780874T>G	GRCh37
NC_000020.9:g.52214281T>G	NCBI36
NG_008334.1:g.14643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.844+117A>C MANE Select	ENSP00000216862.3:n.844+117A>C
ENST00000216862.7:c.844+117A>C	ENSP00000216862.3:n.844+117A>C
ENST00000395954.3:c.418+117A>C	ENSP00000379284.3:n.418+117A>C
ENST00000395955.7:c.844+117A>C	ENSP00000379285.3:n.844+117A>C
ENST00000487593.1:n.97+117A>C
NM_000782.4:c.844+117A>C	NP_000773.2:n.844+117A>C
NM_001128915.1:c.844+117A>C	NP_001122387.1:n.844+117A>C
XM_005260304.3:c.844+117A>C	XP_005260361.1:n.844+117A>C
XM_005260304.5:c.844+117A>C	XP_005260361.1:n.844+117A>C
XM_017027691.2:c.844+117A>C	XP_016883180.1:n.844+117A>C
XM_017027692.2:c.844+117A>C	XP_016883181.1:n.844+117A>C
XM_017027693.2:c.844+117A>C	XP_016883182.1:n.844+117A>C
NM_000782.5:c.844+117A>C MANE Select	NP_000773.2:n.844+117A>C
NM_001128915.2:c.844+117A>C	NP_001122387.1:n.844+117A>C