Canonical Allele Identifier: CA163181675
Gene: CYP3A43 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99859982C>A , CM000669.2:g.99859982C>A GRCh38
NC_000007.13:g.99457605C>A , CM000669.1:g.99457605C>A GRCh37
NC_000007.12:g.99295541C>A NCBI36
NG_007935.1:g.36970C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354829.7:c.1018C>A MANE Select ENSP00000346887.3:p.Pro340Thr
ENST00000222382.5:c.1018C>A ENSP00000222382.5:p.Pro340Thr
ENST00000312017.9:c.1018C>A ENSP00000312110.5:p.Pro340Thr
ENST00000342499.8:c.*317C>A ENSP00000345351.5:n.*317C>A
ENST00000354829.6:c.1018C>A ENSP00000346887.2:p.Pro340Thr
ENST00000415413.5:c.385C>A ENSP00000401521.1:p.Pro129Thr
ENST00000417625.5:c.688C>A ENSP00000416581.1:p.Pro230Thr
ENST00000433277.5:c.*580C>A ENSP00000400316.1:n.*580C>A
ENST00000434806.5:c.1139C>A ENSP00000411653.1:n.1139C>A
ENST00000436834.5:c.*704C>A ENSP00000415221.1:n.*704C>A
ENST00000444905.5:c.259C>A ENSP00000405557.1:p.Pro87Thr
ENST00000463915.5:n.291C>A
ENST00000472352.1:n.451C>A
ENST00000477658.5:n.689C>A
ENST00000481362.5:n.1354C>A
ENST00000491648.5:n.486C>A
ENST00000495115.5:n.291C>A
NM_001278921.1:c.688C>A NP_001265850.1:p.Pro230Thr
NM_022820.4:c.1018C>A NP_073731.1:p.Pro340Thr
NM_057095.2:c.1018C>A NP_476436.1:p.Pro340Thr
NM_057096.3:c.1018C>A NP_476437.1:p.Pro340Thr
NR_103868.1:n.978C>A
NR_103869.1:n.1242C>A
XM_011516493.1:c.1018C>A XP_011514795.1:p.Pro340Thr
XM_011516494.1:c.598C>A XP_011514796.1:p.Pro200Thr
XM_017012544.1:c.586C>A XP_016868033.1:p.Pro196Thr
XM_017012545.1:c.586C>A XP_016868034.1:p.Pro196Thr
XM_024446877.1:c.688C>A XP_024302645.1:p.Pro230Thr
NM_001278921.2:c.688C>A NP_001265850.1:p.Pro230Thr
NM_022820.5:c.1018C>A NP_073731.1:p.Pro340Thr
NM_057095.3:c.1018C>A MANE Select NP_476436.1:p.Pro340Thr
NM_057096.4:c.1018C>A NP_476437.1:p.Pro340Thr
NR_103868.2:n.978C>A
NR_103869.2:n.1242C>A