Canonical Allele Identifier: CA350592429
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814152-G-T
MyVariant Identifiers: chr2:g.219678875G>T (hg19) chr2:g.218814152G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814152G>T , CM000664.2:g.218814152G>T GRCh38
NC_000002.11:g.219678875G>T , CM000664.1:g.219678875G>T GRCh37
NC_000002.10:g.219387119G>T NCBI36
NG_007959.1:g.37404G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1149G>T MANE Select ENSP00000258415.4:p.Met383Ile
ENST00000258415.8:c.1149G>T ENSP00000258415.4:p.Met383Ile
ENST00000494263.5:n.1583G>T
NM_000784.3:c.1149G>T NP_000775.1:p.Met383Ile
XM_017003488.2:c.729G>T XP_016858977.1:p.Met243Ile
NM_000784.4:c.1149G>T MANE Select NP_000775.1:p.Met383Ile
Search 100 bp 5'
Search 100 bp 3'