Canonical Allele Identifier: CA350591756
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814087C>G , CM000664.2:g.218814087C>G GRCh38
NC_000002.11:g.219678810C>G , CM000664.1:g.219678810C>G GRCh37
NC_000002.10:g.219387054C>G NCBI36
NG_007959.1:g.37339C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1084C>G MANE Select ENSP00000258415.4:p.His362Asp
ENST00000258415.8:c.1084C>G ENSP00000258415.4:p.His362Asp
ENST00000466602.1:n.1206C>G
ENST00000494263.5:n.1518C>G
NM_000784.3:c.1084C>G NP_000775.1:p.His362Asp
XM_017003488.2:c.664C>G XP_016858977.1:p.His222Asp
NM_000784.4:c.1084C>G MANE Select NP_000775.1:p.His362Asp