Canonical Allele Identifier: CA350586176
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1553616268
MyVariant Identifiers: chr2:g.219677310T>A (hg19) chr2:g.218812587T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812587T>A , CM000664.2:g.218812587T>A GRCh38
NC_000002.11:g.219677310T>A , CM000664.1:g.219677310T>A GRCh37
NC_000002.10:g.219385554T>A NCBI36
NG_007959.1:g.35839T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.682T>A MANE Select ENSP00000258415.4:p.Cys228Ser
ENST00000258415.8:c.682T>A ENSP00000258415.4:p.Cys228Ser
ENST00000411688.1:c.400T>A ENSP00000392671.1:p.Cys134Ser
ENST00000445971.1:c.*143T>A ENSP00000404945.1:n.*143T>A
ENST00000466602.1:n.630T>A
ENST00000494263.5:n.1116T>A
NM_000784.3:c.682T>A NP_000775.1:p.Cys228Ser
XM_017003488.2:c.262T>A XP_016858977.1:p.Cys88Ser
NM_000784.4:c.682T>A MANE Select NP_000775.1:p.Cys228Ser
Search 100 bp 5'
Search 100 bp 3'