Canonical Allele Identifier: CA409392094

Gene: CYP24A1

Linked Data

• dbSNP Id: rs114930663
• gnomAD v2: 20-52781100-C-G
• gnomAD v4: 20-54164561-C-G
• MyVariant Identifiers: chr20:g.52781100C>G (hg19) ; chr20:g.54164561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164561C>G , CM000682.2:g.54164561C>G	GRCh38
NC_000020.10:g.52781100C>G , CM000682.1:g.52781100C>G	GRCh37
NC_000020.9:g.52214507C>G	NCBI36
NG_008334.1:g.14417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.735G>C MANE Select	ENSP00000216862.3:p.Met245Ile
ENST00000216862.7:c.735G>C	ENSP00000216862.3:p.Met245Ile
ENST00000395954.3:c.309G>C	ENSP00000379284.3:p.Met103Ile
ENST00000395955.7:c.735G>C	ENSP00000379285.3:p.Met245Ile
NM_000782.4:c.735G>C	NP_000773.2:p.Met245Ile
NM_001128915.1:c.735G>C	NP_001122387.1:p.Met245Ile
XM_005260304.3:c.735G>C	XP_005260361.1:p.Met245Ile
XM_005260304.5:c.735G>C	XP_005260361.1:p.Met245Ile
XM_017027691.2:c.735G>C	XP_016883180.1:p.Met245Ile
XM_017027692.2:c.735G>C	XP_016883181.1:p.Met245Ile
XM_017027693.2:c.735G>C	XP_016883182.1:p.Met245Ile
NM_000782.5:c.735G>C MANE Select	NP_000773.2:p.Met245Ile
NM_001128915.2:c.735G>C	NP_001122387.1:p.Met245Ile