Canonical Allele Identifier: CA431234166
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678821G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814098G>T , CM000664.2:g.218814098G>T GRCh38
NC_000002.11:g.219678821G>T , CM000664.1:g.219678821G>T GRCh37
NC_000002.10:g.219387065G>T NCBI36
NG_007959.1:g.37350G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1095G>T MANE Select ENSP00000258415.4:p.Val365=
ENST00000258415.8:c.1095G>T ENSP00000258415.4:p.Val365=
ENST00000494263.5:n.1529G>T
NM_000784.3:c.1095G>T NP_000775.1:p.Val365=
XM_017003488.2:c.675G>T XP_016858977.1:p.Val225=
NM_000784.4:c.1095G>T MANE Select NP_000775.1:p.Val365=