Canonical Allele Identifier: CA431414199
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1943401206
MyVariant Identifiers: chr2:g.219647121G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782398G>C , CM000664.2:g.218782398G>C GRCh38
NC_000002.11:g.219647121G>C , CM000664.1:g.219647121G>C GRCh37
NC_000002.10:g.219355365G>C NCBI36
NG_007959.1:g.5650G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.216G>C MANE Select ENSP00000258415.4:p.Leu72=
ENST00000258415.8:c.216G>C ENSP00000258415.4:p.Leu72=
ENST00000445971.1:c.216G>C ENSP00000404945.1:p.Leu72=
ENST00000466602.1:n.225G>C
ENST00000494263.5:n.650G>C
NM_000784.3:c.216G>C NP_000775.1:p.Leu72=
XM_017003488.2:c.-14G>C XP_016858977.1:n.-14G>C
NM_000784.4:c.216G>C MANE Select NP_000775.1:p.Leu72=
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