Canonical Allele Identifier: CA350586124

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1943731019
• gnomAD v3: 2-218812585-G-A
• gnomAD v4: 2-218812585-G-A
• MyVariant Identifiers: chr2:g.219677308G>A (hg19) ; chr2:g.218812585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812585G>A , CM000664.2:g.218812585G>A	GRCh38
NC_000002.11:g.219677308G>A , CM000664.1:g.219677308G>A	GRCh37
NC_000002.10:g.219385552G>A	NCBI36
NG_007959.1:g.35837G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.680G>A MANE Select	ENSP00000258415.4:p.Gly227Asp
ENST00000258415.8:c.680G>A	ENSP00000258415.4:p.Gly227Asp
ENST00000411688.1:c.398G>A	ENSP00000392671.1:p.Gly133Asp
ENST00000445971.1:c.*141G>A	ENSP00000404945.1:n.*141G>A
ENST00000466602.1:n.628G>A
ENST00000494263.5:n.1114G>A
NM_000784.3:c.680G>A	NP_000775.1:p.Gly227Asp
XM_017003488.2:c.260G>A	XP_016858977.1:p.Gly87Asp
NM_000784.4:c.680G>A MANE Select	NP_000775.1:p.Gly227Asp