Canonical Allele Identifier: CA2526002190
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814282A>G , CM000664.2:g.218814282A>G GRCh38
NC_000002.11:g.219679005A>G , CM000664.1:g.219679005A>G GRCh37
NC_000002.10:g.219387249A>G NCBI36
NG_007959.1:g.37534A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1184+95A>G MANE Select ENSP00000258415.4:n.1184+95A>G
ENST00000258415.8:c.1184+95A>G ENSP00000258415.4:n.1184+95A>G
ENST00000494263.5:n.1713A>G
NM_000784.3:c.1184+95A>G NP_000775.1:n.1184+95A>G
XM_017003488.2:c.764+95A>G XP_016858977.1:n.764+95A>G
NM_000784.4:c.1184+95A>G MANE Select NP_000775.1:n.1184+95A>G