Canonical Allele Identifier: CA130776
Gene: CYP24A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29680
dbSNP Id: rs6068812

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54158096A>G , CM000682.2:g.54158096A>G GRCh38
NC_000020.10:g.52774635A>G , CM000682.1:g.52774635A>G GRCh37
NC_000020.9:g.52208042A>G NCBI36
NG_008334.1:g.20882T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216862.8:c.1226T>C MANE Select ENSP00000216862.3:p.Leu409Ser
ENST00000216862.7:c.1226T>C ENSP00000216862.3:p.Leu409Ser
ENST00000395954.3:c.800T>C ENSP00000379284.3:p.Leu267Ser
ENST00000395955.7:c.1226T>C ENSP00000379285.3:p.Leu409Ser
NM_000782.4:c.1226T>C NP_000773.2:p.Leu409Ser
NM_001128915.1:c.1226T>C NP_001122387.1:p.Leu409Ser
XM_005260304.3:c.1226T>C XP_005260361.1:p.Leu409Ser
XM_005260304.5:c.1226T>C XP_005260361.1:p.Leu409Ser
XM_017027691.2:c.1226T>C XP_016883180.1:p.Leu409Ser
XM_017027692.2:c.1226T>C XP_016883181.1:p.Leu409Ser
XM_017027693.2:c.1226T>C XP_016883182.1:p.Leu409Ser
NM_000782.5:c.1226T>C MANE Select NP_000773.2:p.Leu409Ser
NM_001128915.2:c.1226T>C NP_001122387.1:p.Leu409Ser