Canonical Allele Identifier: CA6658408

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765345C>A , CM000674.2:g.57765345C>A	GRCh38
NC_000012.11:g.58159128C>A , CM000674.1:g.58159128C>A	GRCh37
NC_000012.10:g.56445395C>A	NCBI36
NG_007076.1:g.6849G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000785.4:c.541G>T MANE Select	NP_000776.1:p.Ala181Ser
ENST00000228606.9:c.541G>T MANE Select	ENSP00000228606.4:p.Ala181Ser
NM_000785.3:c.541G>T	NP_000776.1:p.Ala181Ser
ENST00000228606.8:c.541G>T	ENSP00000228606.4:p.Ala181Ser
ENST00000546567.5:c.-165G>T	ENSP00000449472.1:n.-165G>T
ENST00000546609.1:c.453G>T
ENST00000546609.2:n.453G>T
ENST00000547344.5:n.595G>T
ENST00000547451.1:n.341G>T
ENST00000713544.1:c.622G>T	ENSP00000518840.1:p.Ala208Ser
ENST00000713545.1:c.599G>T	ENSP00000518841.1:p.Arg200Leu