Canonical Allele Identifier: CA2575206569
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764587T>C , CM000674.2:g.57764587T>C GRCh38
NC_000012.11:g.58158370T>C , CM000674.1:g.58158370T>C GRCh37
NC_000012.10:g.56444637T>C NCBI36
NG_007076.1:g.7607A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1045-37A>G ENSP00000518840.1:n.1045-37A>G
ENST00000713545.1:c.1022-37A>G ENSP00000518841.1:n.1022-37A>G
ENST00000228606.9:c.964-37A>G MANE Select ENSP00000228606.4:n.964-37A>G
ENST00000228606.8:c.964-37A>G ENSP00000228606.4:n.964-37A>G
ENST00000546567.5:c.259-37A>G ENSP00000449472.1:n.259-37A>G
ENST00000547344.5:n.1103-37A>G
ENST00000547451.1:n.930A>G
NM_000785.3:c.964-37A>G NP_000776.1:n.964-37A>G
NM_000785.4:c.964-37A>G MANE Select NP_000776.1:n.964-37A>G