Canonical Allele Identifier: CA350591568
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678785G>C (hg19) chr2:g.218814062G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814062G>C , CM000664.2:g.218814062G>C GRCh38
NC_000002.11:g.219678785G>C , CM000664.1:g.219678785G>C GRCh37
NC_000002.10:g.219387029G>C NCBI36
NG_007959.1:g.37314G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1059G>C MANE Select ENSP00000258415.4:p.Lys353Asn
ENST00000258415.8:c.1059G>C ENSP00000258415.4:p.Lys353Asn
ENST00000445971.1:c.*520G>C ENSP00000404945.1:n.*520G>C
ENST00000466602.1:n.1181G>C
ENST00000494263.5:n.1493G>C
NM_000784.3:c.1059G>C NP_000775.1:p.Lys353Asn
XM_017003488.2:c.639G>C XP_016858977.1:p.Lys213Asn
NM_000784.4:c.1059G>C MANE Select NP_000775.1:p.Lys353Asn
Search 100 bp 5'
Search 100 bp 3'