Canonical Allele Identifier: CA2663164988

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218782575-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782575G>T , CM000664.2:g.218782575G>T	GRCh38
NC_000002.11:g.219647298G>T , CM000664.1:g.219647298G>T	GRCh37
NC_000002.10:g.219355542G>T	NCBI36
NG_007959.1:g.5827G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+138G>T MANE Select	ENSP00000258415.4:n.255+138G>T
ENST00000258415.8:c.255+138G>T	ENSP00000258415.4:n.255+138G>T
ENST00000445971.1:c.255+138G>T	ENSP00000404945.1:n.255+138G>T
ENST00000466602.1:n.264+138G>T
ENST00000494263.5:n.689+138G>T
NM_000784.3:c.255+138G>T	NP_000775.1:n.255+138G>T
XM_017003488.2:c.26+138G>T	XP_016858977.1:n.26+138G>T
NM_000784.4:c.255+138G>T MANE Select	NP_000775.1:n.255+138G>T