Canonical Allele Identifier: CA9915830

Gene: CYP24A1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54157540T>C , CM000682.2:g.54157540T>C	GRCh38
NC_000020.10:g.52774079T>C , CM000682.1:g.52774079T>C	GRCh37
NC_000020.9:g.52207486T>C	NCBI36
NG_008334.1:g.21438A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000782.5:c.1282A>G MANE Select	NP_000773.2:p.Asn428Asp
ENST00000216862.8:c.1282A>G MANE Select	ENSP00000216862.3:p.Asn428Asp
NM_000782.4:c.1282A>G	NP_000773.2:p.Asn428Asp
NM_001128915.1:c.1237-251A>G	NP_001122387.1:n.1237-251A>G
NM_001128915.2:c.1237-251A>G	NP_001122387.1:n.1237-251A>G
ENST00000216862.7:c.1282A>G	ENSP00000216862.3:p.Asn428Asp
ENST00000395954.3:c.856A>G	ENSP00000379284.3:p.Asn286Asp
ENST00000395955.7:c.1237-251A>G	ENSP00000379285.3:n.1237-251A>G
XM_005260304.3:c.1282A>G	XP_005260361.1:p.Asn428Asp
XM_005260304.5:c.1282A>G	XP_005260361.1:p.Asn428Asp
XM_017027691.2:c.1282A>G	XP_016883180.1:p.Asn428Asp
XM_017027692.2:c.1282A>G	XP_016883181.1:p.Asn428Asp
XM_017027693.2:c.1237-251A>G	XP_016883182.1:n.1237-251A>G