Canonical Allele Identifier: CA350591528
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs770061323
MyVariant Identifiers: chr2:g.219678783A>G (hg19) chr2:g.218814060A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814060A>G , CM000664.2:g.218814060A>G GRCh38
NC_000002.11:g.219678783A>G , CM000664.1:g.219678783A>G GRCh37
NC_000002.10:g.219387027A>G NCBI36
NG_007959.1:g.37312A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1057A>G MANE Select ENSP00000258415.4:p.Lys353Glu
ENST00000258415.8:c.1057A>G ENSP00000258415.4:p.Lys353Glu
ENST00000445971.1:c.*518A>G ENSP00000404945.1:n.*518A>G
ENST00000466602.1:n.1179A>G
ENST00000494263.5:n.1491A>G
NM_000784.3:c.1057A>G NP_000775.1:p.Lys353Glu
XM_017003488.2:c.637A>G XP_016858977.1:p.Lys213Glu
NM_000784.4:c.1057A>G MANE Select NP_000775.1:p.Lys353Glu
Search 100 bp 5'
Search 100 bp 3'