Canonical Allele Identifier: CA539840569
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1296219100

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814208G>T , CM000664.2:g.218814208G>T GRCh38
NC_000002.11:g.219678931G>T , CM000664.1:g.219678931G>T GRCh37
NC_000002.10:g.219387175G>T NCBI36
NG_007959.1:g.37460G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1184+21G>T MANE Select ENSP00000258415.4:n.1184+21G>T
ENST00000258415.8:c.1184+21G>T ENSP00000258415.4:n.1184+21G>T
ENST00000494263.5:n.1639G>T
NM_000784.3:c.1184+21G>T NP_000775.1:n.1184+21G>T
XM_017003488.2:c.764+21G>T XP_016858977.1:n.764+21G>T
NM_000784.4:c.1184+21G>T MANE Select NP_000775.1:n.1184+21G>T