Canonical Allele Identifier: CA510910008
Gene: CYP24A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.52781091C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54164552C>A , CM000682.2:g.54164552C>A GRCh38
NC_000020.10:g.52781091C>A , CM000682.1:g.52781091C>A GRCh37
NC_000020.9:g.52214498C>A NCBI36
NG_008334.1:g.14426G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216862.8:c.744G>T MANE Select ENSP00000216862.3:p.Thr248=
ENST00000216862.7:c.744G>T ENSP00000216862.3:p.Thr248=
ENST00000395954.3:c.318G>T ENSP00000379284.3:p.Thr106=
ENST00000395955.7:c.744G>T ENSP00000379285.3:p.Thr248=
NM_000782.4:c.744G>T NP_000773.2:p.Thr248=
NM_001128915.1:c.744G>T NP_001122387.1:p.Thr248=
XM_005260304.3:c.744G>T XP_005260361.1:p.Thr248=
XM_005260304.5:c.744G>T XP_005260361.1:p.Thr248=
XM_017027691.2:c.744G>T XP_016883180.1:p.Thr248=
XM_017027692.2:c.744G>T XP_016883181.1:p.Thr248=
XM_017027693.2:c.744G>T XP_016883182.1:p.Thr248=
NM_000782.5:c.744G>T MANE Select NP_000773.2:p.Thr248=
NM_001128915.2:c.744G>T NP_001122387.1:p.Thr248=