Canonical Allele Identifier: CA350348
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 220045
dbSNP Id: rs114220185

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13931214G>A , CM000667.2:g.13931214G>A GRCh38
NC_000005.9:g.13931323G>A , CM000667.1:g.13931323G>A GRCh37
NC_000005.8:g.13984323G>A NCBI36
NG_013081.1:g.18267C>T
NG_013081.2:g.18267C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.88C>T MANE Select ENSP00000265104.4:p.Arg30Trp
ENST00000680213.1:c.-153C>T ENSP00000506622.1:p.=
ENST00000681290.1:c.43C>T ENSP00000505288.1:p.Arg15Trp
ENST00000265104.4:c.88C>T ENSP00000265104.4:p.Arg30Trp
ENST00000508040.1:n.447C>T
NM_001369.2:c.88C>T NP_001360.1:p.Arg30Trp
XM_005248262.2:c.43C>T XP_005248319.1:p.Arg15Trp
XM_011513990.1:c.88C>T XP_011512292.1:p.Arg30Trp
XR_925598.1:n.295C>T
XM_005248262.3:c.196C>T XP_005248319.2:p.Arg66Trp
XM_017009177.1:c.196C>T XP_016864666.1:p.Arg66Trp
XM_017009178.1:c.-949C>T XP_016864667.1:p.=
XM_017009180.1:c.196C>T XP_016864669.1:p.Arg66Trp
XM_017009181.1:c.196C>T XP_016864670.1:p.Arg66Trp
XM_017009182.1:c.196C>T XP_016864671.1:p.Arg66Trp
XM_017009183.1:c.196C>T XP_016864672.1:p.Arg66Trp
XM_017009184.1:c.196C>T XP_016864673.1:p.Arg66Trp
XM_017009187.1:c.196C>T XP_016864676.1:p.Arg66Trp
XM_024454388.1:c.-2819C>T XP_024310156.1:p.=
XM_024454389.1:c.-1872C>T XP_024310157.1:p.=
XR_001742034.1:n.213C>T
XR_001742035.1:n.213C>T
NM_001369.3:c.88C>T MANE Select NP_001360.1:p.Arg30Trp