Canonical Allele Identifier: CA1042479743
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1943403302
gnomAD v3: 2-218782603-G-T
gnomAD v4: 2-218782603-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782603G>T , CM000664.2:g.218782603G>T GRCh38
NC_000002.11:g.219647326G>T , CM000664.1:g.219647326G>T GRCh37
NC_000002.10:g.219355570G>T NCBI36
NG_007959.1:g.5855G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.255+166G>T MANE Select ENSP00000258415.4:n.255+166G>T
ENST00000258415.8:c.255+166G>T ENSP00000258415.4:n.255+166G>T
ENST00000445971.1:c.255+166G>T ENSP00000404945.1:n.255+166G>T
ENST00000466602.1:n.264+166G>T
ENST00000494263.5:n.689+166G>T
NM_000784.3:c.255+166G>T NP_000775.1:n.255+166G>T
XM_017003488.2:c.26+166G>T XP_016858977.1:n.26+166G>T
NM_000784.4:c.255+166G>T MANE Select NP_000775.1:n.255+166G>T
Search 100 bp 5'
Search 100 bp 3'