Canonical Allele Identifier: CA409391883

Gene: CYP24A1

Linked Data

• gnomAD v4: 20-54164466-G-T
• MyVariant Identifiers: chr20:g.52781005G>T (hg19) ; chr20:g.54164466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164466G>T , CM000682.2:g.54164466G>T	GRCh38
NC_000020.10:g.52781005G>T , CM000682.1:g.52781005G>T	GRCh37
NC_000020.9:g.52214412G>T	NCBI36
NG_008334.1:g.14512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.830C>A MANE Select	ENSP00000216862.3:p.Thr277Asn
ENST00000216862.7:c.830C>A	ENSP00000216862.3:p.Thr277Asn
ENST00000395954.3:c.404C>A	ENSP00000379284.3:p.Thr135Asn
ENST00000395955.7:c.830C>A	ENSP00000379285.3:p.Thr277Asn
ENST00000487593.1:n.83C>A
NM_000782.4:c.830C>A	NP_000773.2:p.Thr277Asn
NM_001128915.1:c.830C>A	NP_001122387.1:p.Thr277Asn
XM_005260304.3:c.830C>A	XP_005260361.1:p.Thr277Asn
XM_005260304.5:c.830C>A	XP_005260361.1:p.Thr277Asn
XM_017027691.2:c.830C>A	XP_016883180.1:p.Thr277Asn
XM_017027692.2:c.830C>A	XP_016883181.1:p.Thr277Asn
XM_017027693.2:c.830C>A	XP_016883182.1:p.Thr277Asn
NM_000782.5:c.830C>A MANE Select	NP_000773.2:p.Thr277Asn
NM_001128915.2:c.830C>A	NP_001122387.1:p.Thr277Asn