Canonical Allele Identifier: CA350592105
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814121A>T , CM000664.2:g.218814121A>T GRCh38
NC_000002.11:g.219678844A>T , CM000664.1:g.219678844A>T GRCh37
NC_000002.10:g.219387088A>T NCBI36
NG_007959.1:g.37373A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1118A>T MANE Select ENSP00000258415.4:p.Gln373Leu
ENST00000258415.8:c.1118A>T ENSP00000258415.4:p.Gln373Leu
ENST00000494263.5:n.1552A>T
NM_000784.3:c.1118A>T NP_000775.1:p.Gln373Leu
XM_017003488.2:c.698A>T XP_016858977.1:p.Gln233Leu
NM_000784.4:c.1118A>T MANE Select NP_000775.1:p.Gln373Leu