Canonical Allele Identifier: CA409392088
Gene: CYP24A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54164559A>G , CM000682.2:g.54164559A>G GRCh38
NC_000020.10:g.52781098A>G , CM000682.1:g.52781098A>G GRCh37
NC_000020.9:g.52214505A>G NCBI36
NG_008334.1:g.14419T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216862.8:c.737T>C MANE Select ENSP00000216862.3:p.Met246Thr
ENST00000216862.7:c.737T>C ENSP00000216862.3:p.Met246Thr
ENST00000395954.3:c.311T>C ENSP00000379284.3:p.Met104Thr
ENST00000395955.7:c.737T>C ENSP00000379285.3:p.Met246Thr
NM_000782.4:c.737T>C NP_000773.2:p.Met246Thr
NM_001128915.1:c.737T>C NP_001122387.1:p.Met246Thr
XM_005260304.3:c.737T>C XP_005260361.1:p.Met246Thr
XM_005260304.5:c.737T>C XP_005260361.1:p.Met246Thr
XM_017027691.2:c.737T>C XP_016883180.1:p.Met246Thr
XM_017027692.2:c.737T>C XP_016883181.1:p.Met246Thr
XM_017027693.2:c.737T>C XP_016883182.1:p.Met246Thr
NM_000782.5:c.737T>C MANE Select NP_000773.2:p.Met246Thr
NM_001128915.2:c.737T>C NP_001122387.1:p.Met246Thr