Canonical Allele Identifier: CA1528441645
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13793569A= , CM000667.2:g.13793569A= GRCh38
NC_000005.9:g.13793678A= , CM000667.1:g.13793678A= GRCh37
NC_000005.8:g.13846678A= NCBI36
NG_013081.1:g.155912T=
NG_013081.2:g.155912T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8170T= MANE Select ENSP00000265104.4:p.Phe2724=
ENST00000681290.1:c.8125T= ENSP00000505288.1:p.Phe2709=
ENST00000265104.4:c.8170T= ENSP00000265104.4:p.Phe2724=
NM_001369.2:c.8170T= NP_001360.1:p.Phe2724=
XM_005248262.2:c.8125T= XP_005248319.1:p.Phe2709=
XM_011513990.1:c.8170T= XP_011512292.1:p.Phe2724=
XR_925598.1:n.8377T=
XM_005248262.3:c.8278T= XP_005248319.2:p.Phe2760=
XM_017009177.1:c.8278T= XP_016864666.1:p.Phe2760=
XM_017009178.1:c.7183T= XP_016864667.1:p.Phe2395=
XM_017009179.2:c.7183T= XP_016864668.1:p.Phe2395=
XM_017009180.1:c.8278T= XP_016864669.1:p.Phe2760=
XM_017009181.1:c.8278T= XP_016864670.1:p.Phe2760=
XM_017009182.1:c.8278T= XP_016864671.1:p.Phe2760=
XM_017009183.1:c.8278T= XP_016864672.1:p.Phe2760=
XM_017009184.1:c.8278T= XP_016864673.1:p.Phe2760=
XM_017009185.1:c.3367T= XP_016864674.1:p.Phe1123=
XM_017009186.1:c.2920T= XP_016864675.1:p.Phe974=
XM_017009188.1:c.2257T= XP_016864677.1:p.Phe753=
XM_024454388.1:c.7183T= XP_024310156.1:p.Phe2395=
XM_024454389.1:c.6772T= XP_024310157.1:p.Phe2258=
XR_001742034.1:n.8295T=
XR_001742035.1:n.8295T=
NM_001369.3:c.8170T= MANE Select NP_001360.1:p.Phe2724=