Canonical Allele Identifier: CA9916136
Community Standard Title: NM_000782.5(CYP24A1):c.476G>C (p.Arg159Pro)
Gene: CYP24A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54171644C>G , CM000682.2:g.54171644C>G GRCh38
NC_000020.10:g.52788183C>G , CM000682.1:g.52788183C>G GRCh37
NC_000020.9:g.52221590C>G NCBI36
NG_008334.1:g.7334G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000782.5:c.476G>C MANE Select NP_000773.2:p.Arg159Pro
ENST00000216862.8:c.476G>C MANE Select ENSP00000216862.3:p.Arg159Pro
NM_000782.4:c.476G>C NP_000773.2:p.Arg159Pro
NM_001128915.1:c.476G>C NP_001122387.1:p.Arg159Pro
NM_001128915.2:c.476G>C NP_001122387.1:p.Arg159Pro
ENST00000216862.7:c.476G>C ENSP00000216862.3:p.Arg159Pro
ENST00000395954.3:c.50G>C ENSP00000379284.3:p.Arg17Pro
ENST00000395955.7:c.476G>C ENSP00000379285.3:p.Arg159Pro
XM_005260304.3:c.476G>C XP_005260361.1:p.Arg159Pro
XM_005260304.5:c.476G>C XP_005260361.1:p.Arg159Pro
XM_017027691.2:c.476G>C XP_016883180.1:p.Arg159Pro
XM_017027692.2:c.476G>C XP_016883181.1:p.Arg159Pro
XM_017027693.2:c.476G>C XP_016883182.1:p.Arg159Pro