Canonical Allele Identifier: CA409392091

Gene: CYP24A1

Linked Data

• MyVariant Identifiers: chr20:g.52781099T>C (hg19) ; chr20:g.54164560T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164560T>C , CM000682.2:g.54164560T>C	GRCh38
NC_000020.10:g.52781099T>C , CM000682.1:g.52781099T>C	GRCh37
NC_000020.9:g.52214506T>C	NCBI36
NG_008334.1:g.14418A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.736A>G MANE Select	ENSP00000216862.3:p.Met246Val
ENST00000216862.7:c.736A>G	ENSP00000216862.3:p.Met246Val
ENST00000395954.3:c.310A>G	ENSP00000379284.3:p.Met104Val
ENST00000395955.7:c.736A>G	ENSP00000379285.3:p.Met246Val
NM_000782.4:c.736A>G	NP_000773.2:p.Met246Val
NM_001128915.1:c.736A>G	NP_001122387.1:p.Met246Val
XM_005260304.3:c.736A>G	XP_005260361.1:p.Met246Val
XM_005260304.5:c.736A>G	XP_005260361.1:p.Met246Val
XM_017027691.2:c.736A>G	XP_016883180.1:p.Met246Val
XM_017027692.2:c.736A>G	XP_016883181.1:p.Met246Val
XM_017027693.2:c.736A>G	XP_016883182.1:p.Met246Val
NM_000782.5:c.736A>G MANE Select	NP_000773.2:p.Met246Val
NM_001128915.2:c.736A>G	NP_001122387.1:p.Met246Val