Canonical Allele Identifier: CA350586652
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1943734288
gnomAD v4: 2-218812639-G-C
MyVariant Identifiers: chr2:g.219677362G>C (hg19) chr2:g.218812639G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812639G>C , CM000664.2:g.218812639G>C GRCh38
NC_000002.11:g.219677362G>C , CM000664.1:g.219677362G>C GRCh37
NC_000002.10:g.219385606G>C NCBI36
NG_007959.1:g.35891G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.734G>C MANE Select ENSP00000258415.4:p.Gly245Ala
ENST00000258415.8:c.734G>C ENSP00000258415.4:p.Gly245Ala
ENST00000411688.1:c.452G>C ENSP00000392671.1:p.Gly151Ala
ENST00000445971.1:c.*195G>C ENSP00000404945.1:n.*195G>C
ENST00000466602.1:n.682G>C
ENST00000494263.5:n.1168G>C
NM_000784.3:c.734G>C NP_000775.1:p.Gly245Ala
XM_017003488.2:c.314G>C XP_016858977.1:p.Gly105Ala
NM_000784.4:c.734G>C MANE Select NP_000775.1:p.Gly245Ala
Search 100 bp 5'
Search 100 bp 3'