Canonical Allele Identifier: CA2653391361

Gene: CYP24A1

Linked Data

• gnomAD v4: 20-54162430-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54162430C>A , CM000682.2:g.54162430C>A	GRCh38
NC_000020.10:g.52778969C>A , CM000682.1:g.52778969C>A	GRCh37
NC_000020.9:g.52212376C>A	NCBI36
NG_008334.1:g.16548G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216862.8:c.990+287G>T MANE Select	ENSP00000216862.3:n.990+287G>T
ENST00000216862.7:c.990+287G>T	ENSP00000216862.3:n.990+287G>T
ENST00000395954.3:c.564+287G>T	ENSP00000379284.3:n.564+287G>T
ENST00000395955.7:c.990+287G>T	ENSP00000379285.3:n.990+287G>T
NM_000782.4:c.990+287G>T	NP_000773.2:n.990+287G>T
NM_001128915.1:c.990+287G>T	NP_001122387.1:n.990+287G>T
XM_005260304.3:c.990+287G>T	XP_005260361.1:n.990+287G>T
XM_005260304.5:c.990+287G>T	XP_005260361.1:n.990+287G>T
XM_017027691.2:c.990+287G>T	XP_016883180.1:n.990+287G>T
XM_017027692.2:c.990+287G>T	XP_016883181.1:n.990+287G>T
XM_017027693.2:c.990+287G>T	XP_016883182.1:n.990+287G>T
NM_000782.5:c.990+287G>T MANE Select	NP_000773.2:n.990+287G>T
NM_001128915.2:c.990+287G>T	NP_001122387.1:n.990+287G>T