Canonical Allele Identifier: CA3205031
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351217
dbSNP Id: rs201706790

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13919205G>A , CM000667.2:g.13919205G>A GRCh38
NC_000005.9:g.13919314G>A , CM000667.1:g.13919314G>A GRCh37
NC_000005.8:g.13972314G>A NCBI36
NG_013081.1:g.30276C>T
NG_013081.2:g.30276C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.946C>T MANE Select ENSP00000265104.4:p.Leu316Phe
ENST00000680213.1:c.706C>T ENSP00000506622.1:p.Leu236Phe
ENST00000681290.1:c.901C>T ENSP00000505288.1:p.Leu301Phe
ENST00000265104.4:c.946C>T ENSP00000265104.4:p.Leu316Phe
ENST00000508040.1:n.1354C>T
NM_001369.2:c.946C>T NP_001360.1:p.Leu316Phe
XM_005248262.2:c.901C>T XP_005248319.1:p.Leu301Phe
XM_011513990.1:c.946C>T XP_011512292.1:p.Leu316Phe
XR_925598.1:n.1153C>T
XM_005248262.3:c.1054C>T XP_005248319.2:p.Leu352Phe
XM_017009177.1:c.1054C>T XP_016864666.1:p.Leu352Phe
XM_017009178.1:c.-42C>T XP_016864667.1:p.=
XM_017009180.1:c.1054C>T XP_016864669.1:p.Leu352Phe
XM_017009181.1:c.1054C>T XP_016864670.1:p.Leu352Phe
XM_017009182.1:c.1054C>T XP_016864671.1:p.Leu352Phe
XM_017009183.1:c.1054C>T XP_016864672.1:p.Leu352Phe
XM_017009184.1:c.1054C>T XP_016864673.1:p.Leu352Phe
XM_017009187.1:c.1054C>T XP_016864676.1:p.Leu352Phe
XM_024454388.1:c.-1961C>T XP_024310156.1:p.=
XM_024454389.1:c.-1014C>T XP_024310157.1:p.=
XR_001742034.1:n.1071C>T
XR_001742035.1:n.1071C>T
NM_001369.3:c.946C>T MANE Select NP_001360.1:p.Leu316Phe