Canonical Allele Identifier: CA401286935
Gene: DNAH17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78567081A>T , CM000679.2:g.78567081A>T GRCh38
NC_000017.10:g.76563163A>T , CM000679.1:g.76563163A>T GRCh37
NC_000017.9:g.74074758A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000389840.7:c.1370T>A MANE Select ENSP00000374490.6:p.Val457Glu
ENST00000389840.6:c.1370T>A ENSP00000374490.6:p.Val457Glu
ENST00000585328.5:c.1370T>A ENSP00000465516.1:p.Val457Glu
ENST00000589793.1:n.582T>A
NM_173628.3:c.1370T>A NP_775899.3:p.Val457Glu
XM_011525416.1:c.1370T>A XP_011523718.1:p.Val457Glu
XM_011525417.1:c.1370T>A XP_011523719.1:p.Val457Glu
XR_934583.1:n.1531T>A
XM_011525416.2:c.1370T>A XP_011523718.1:p.Val457Glu
XM_024451013.1:c.1370T>A XP_024306781.1:p.Val457Glu
XM_024451014.1:c.1370T>A XP_024306782.1:p.Val457Glu
XR_002958080.1:n.1533T>A
XR_002958081.1:n.1537T>A
NM_173628.4:c.1370T>A MANE Select NP_775899.3:p.Val457Glu