Canonical Allele Identifier: CA409392073

Gene: CYP24A1

Linked Data

• MyVariant Identifiers: chr20:g.52781092G>T (hg19) ; chr20:g.54164553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164553G>T , CM000682.2:g.54164553G>T	GRCh38
NC_000020.10:g.52781092G>T , CM000682.1:g.52781092G>T	GRCh37
NC_000020.9:g.52214499G>T	NCBI36
NG_008334.1:g.14425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.743C>A MANE Select	ENSP00000216862.3:p.Thr248Lys
ENST00000216862.7:c.743C>A	ENSP00000216862.3:p.Thr248Lys
ENST00000395954.3:c.317C>A	ENSP00000379284.3:p.Thr106Lys
ENST00000395955.7:c.743C>A	ENSP00000379285.3:p.Thr248Lys
NM_000782.4:c.743C>A	NP_000773.2:p.Thr248Lys
NM_001128915.1:c.743C>A	NP_001122387.1:p.Thr248Lys
XM_005260304.3:c.743C>A	XP_005260361.1:p.Thr248Lys
XM_005260304.5:c.743C>A	XP_005260361.1:p.Thr248Lys
XM_017027691.2:c.743C>A	XP_016883180.1:p.Thr248Lys
XM_017027692.2:c.743C>A	XP_016883181.1:p.Thr248Lys
XM_017027693.2:c.743C>A	XP_016883182.1:p.Thr248Lys
NM_000782.5:c.743C>A MANE Select	NP_000773.2:p.Thr248Lys
NM_001128915.2:c.743C>A	NP_001122387.1:p.Thr248Lys