Canonical Allele Identifier: CA1328928973
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1943738446
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812850G>T , CM000664.2:g.218812850G>T GRCh38
NC_000002.11:g.219677573G>T , CM000664.1:g.219677573G>T GRCh37
NC_000002.10:g.219385817G>T NCBI36
NG_007959.1:g.36102G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.845-74G>T MANE Select ENSP00000258415.4:n.845-74G>T
ENST00000258415.8:c.845-74G>T ENSP00000258415.4:n.845-74G>T
ENST00000411688.1:c.563-74G>T ENSP00000392671.1:n.563-74G>T
ENST00000445971.1:c.*306-74G>T ENSP00000404945.1:n.*306-74G>T
ENST00000466602.1:n.893G>T
ENST00000494263.5:n.1279-74G>T
NM_000784.3:c.845-74G>T NP_000775.1:n.845-74G>T
XM_017003488.2:c.425-74G>T XP_016858977.1:n.425-74G>T
NM_000784.4:c.845-74G>T MANE Select NP_000775.1:n.845-74G>T
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