Canonical Allele Identifier: CA350591135
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814021-A-C
MyVariant Identifiers: chr2:g.219678744A>C (hg19) chr2:g.218814021A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814021A>C , CM000664.2:g.218814021A>C GRCh38
NC_000002.11:g.219678744A>C , CM000664.1:g.219678744A>C GRCh37
NC_000002.10:g.219386988A>C NCBI36
NG_007959.1:g.37273A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1018A>C MANE Select ENSP00000258415.4:p.Thr340Pro
ENST00000258415.8:c.1018A>C ENSP00000258415.4:p.Thr340Pro
ENST00000445971.1:c.*479A>C ENSP00000404945.1:n.*479A>C
ENST00000466602.1:n.1140A>C
ENST00000494263.5:n.1452A>C
NM_000784.3:c.1018A>C NP_000775.1:p.Thr340Pro
XM_017003488.2:c.598A>C XP_016858977.1:p.Thr200Pro
NM_000784.4:c.1018A>C MANE Select NP_000775.1:p.Thr340Pro
Search 100 bp 5'
Search 100 bp 3'