Canonical Allele Identifier: CA409392095

Gene: CYP24A1

Linked Data

• dbSNP Id: rs1307207083
• gnomAD v2: 20-52781101-A-G
• gnomAD v4: 20-54164562-A-G
• MyVariant Identifiers: chr20:g.52781101A>G (hg19) ; chr20:g.54164562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164562A>G , CM000682.2:g.54164562A>G	GRCh38
NC_000020.10:g.52781101A>G , CM000682.1:g.52781101A>G	GRCh37
NC_000020.9:g.52214508A>G	NCBI36
NG_008334.1:g.14416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.734T>C MANE Select	ENSP00000216862.3:p.Met245Thr
ENST00000216862.7:c.734T>C	ENSP00000216862.3:p.Met245Thr
ENST00000395954.3:c.308T>C	ENSP00000379284.3:p.Met103Thr
ENST00000395955.7:c.734T>C	ENSP00000379285.3:p.Met245Thr
NM_000782.4:c.734T>C	NP_000773.2:p.Met245Thr
NM_001128915.1:c.734T>C	NP_001122387.1:p.Met245Thr
XM_005260304.3:c.734T>C	XP_005260361.1:p.Met245Thr
XM_005260304.5:c.734T>C	XP_005260361.1:p.Met245Thr
XM_017027691.2:c.734T>C	XP_016883180.1:p.Met245Thr
XM_017027692.2:c.734T>C	XP_016883181.1:p.Met245Thr
XM_017027693.2:c.734T>C	XP_016883182.1:p.Met245Thr
NM_000782.5:c.734T>C MANE Select	NP_000773.2:p.Met245Thr
NM_001128915.2:c.734T>C	NP_001122387.1:p.Met245Thr