Canonical Allele Identifier: CA2663168114
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814292-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814292A>G , CM000664.2:g.218814292A>G GRCh38
NC_000002.11:g.219679015A>G , CM000664.1:g.219679015A>G GRCh37
NC_000002.10:g.219387259A>G NCBI36
NG_007959.1:g.37544A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1185-88A>G MANE Select ENSP00000258415.4:n.1185-88A>G
ENST00000258415.8:c.1185-88A>G ENSP00000258415.4:n.1185-88A>G
ENST00000494263.5:n.1723A>G
NM_000784.3:c.1185-88A>G NP_000775.1:n.1185-88A>G
XM_017003488.2:c.765-88A>G XP_016858977.1:n.765-88A>G
NM_000784.4:c.1185-88A>G MANE Select NP_000775.1:n.1185-88A>G
Search 100 bp 5'
Search 100 bp 3'