Canonical Allele Identifier: CA16044245
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375407
ClinVar RCV Id: RCV000416454
dbSNP Id: rs1057519469

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812926A>T , CM000664.2:g.218812926A>T GRCh38
NC_000002.11:g.219677649A>T , CM000664.1:g.219677649A>T GRCh37
NC_000002.10:g.219385893A>T NCBI36
NG_007959.1:g.36178A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.847A>T MANE Select ENSP00000258415.4:p.Lys283Ter
ENST00000258415.8:c.847A>T ENSP00000258415.4:p.Lys283Ter
ENST00000411688.1:c.565A>T ENSP00000392671.1:p.Lys189Ter
ENST00000445971.1:c.*308A>T ENSP00000404945.1:n.*308A>T
ENST00000466602.1:n.969A>T
ENST00000494263.5:n.1281A>T
NM_000784.3:c.847A>T NP_000775.1:p.Lys283Ter
XM_017003488.2:c.427A>T XP_016858977.1:p.Lys143Ter
NM_000784.4:c.847A>T MANE Select NP_000775.1:p.Lys283Ter