Canonical Allele Identifier: CA502114889
Gene: DNAH17 HGNC NCBI

Linked Data

dbSNP Id: rs1399430823
MyVariant Identifiers: chr17:g.76563156A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78567074A>T , CM000679.2:g.78567074A>T GRCh38
NC_000017.10:g.76563156A>T , CM000679.1:g.76563156A>T GRCh37
NC_000017.9:g.74074751A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000389840.7:c.1377T>A MANE Select ENSP00000374490.6:p.Arg459=
ENST00000389840.6:c.1377T>A ENSP00000374490.6:p.Arg459=
ENST00000585328.5:c.1377T>A ENSP00000465516.1:p.Arg459=
ENST00000589793.1:n.589T>A
NM_173628.3:c.1377T>A NP_775899.3:p.Arg459=
XM_011525416.1:c.1377T>A XP_011523718.1:p.Arg459=
XM_011525417.1:c.1377T>A XP_011523719.1:p.Arg459=
XR_934583.1:n.1538T>A
XM_011525416.2:c.1377T>A XP_011523718.1:p.Arg459=
XM_024451013.1:c.1377T>A XP_024306781.1:p.Arg459=
XM_024451014.1:c.1377T>A XP_024306782.1:p.Arg459=
XR_002958080.1:n.1540T>A
XR_002958081.1:n.1544T>A
NM_173628.4:c.1377T>A MANE Select NP_775899.3:p.Arg459=