Canonical Allele Identifier: CA8638288
Gene: PHB1 HGNC NCBI

Linked Data

dbSNP Id: rs369362522

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49409154C>T , CM000679.2:g.49409154C>T GRCh38
NC_000017.10:g.47486516C>T , CM000679.1:g.47486516C>T GRCh37
NC_000017.9:g.44841515C>T NCBI36
NG_023046.1:g.10727G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696365.1:c.398G>A ENSP00000512581.1:p.Arg133His
ENST00000300408.8:c.398G>A MANE Select ENSP00000300408.3:p.Arg133His
ENST00000419140.7:c.398G>A ENSP00000393320.3:p.Arg133His
ENST00000434917.3:n.489G>A
ENST00000446735.6:c.236G>A ENSP00000407828.2:p.Arg79His
ENST00000504124.6:c.398G>A ENSP00000426433.3:p.Arg133His
ENST00000508009.6:n.489G>A
ENST00000511832.6:c.398G>A ENSP00000425035.2:p.Arg133His
ENST00000512041.7:c.398G>A ENSP00000422182.3:p.Arg133His
ENST00000614445.5:c.398G>A ENSP00000479488.1:p.Arg133His
ENST00000617874.5:c.398G>A ENSP00000484113.1:p.Arg133His
ENST00000300408.7:c.398G>A ENSP00000300408.3:p.Arg133His
ENST00000393345.8:n.449G>A
ENST00000419140.6:c.398G>A ENSP00000393320.2:p.Arg133His
ENST00000446735.5:c.398G>A ENSP00000407828.1:p.Arg133His
ENST00000504124.5:c.398G>A ENSP00000426433.2:p.Arg133His
ENST00000506273.1:n.353G>A
ENST00000508009.5:n.225G>A
ENST00000511832.5:c.398G>A ENSP00000425035.1:p.Arg133His
ENST00000512041.6:c.398G>A ENSP00000422182.2:p.Arg133His
ENST00000614445.4:c.398G>A ENSP00000479488.1:p.Arg133His
ENST00000617874.4:c.398G>A ENSP00000484113.1:p.Arg133His
NM_001281496.1:c.398G>A NP_001268425.1:p.Arg133His
NM_001281497.1:c.398G>A NP_001268426.1:p.Arg133His
NM_001281715.1:c.398G>A NP_001268644.1:p.Arg133His
NM_002634.3:c.398G>A NP_002625.1:p.Arg133His
XM_017024763.1:c.398G>A XP_016880252.1:p.Arg133His
NM_002634.4:c.398G>A MANE Select NP_002625.1:p.Arg133His
NM_001281496.2:c.398G>A NP_001268425.1:p.Arg133His
NM_001281497.2:c.398G>A NP_001268426.1:p.Arg133His
NM_001281715.2:c.398G>A NP_001268644.1:p.Arg133His