Canonical Allele Identifier: CA1528422923
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752158G= , CM000667.2:g.13752158G= GRCh38
NC_000005.9:g.13752267G= , CM000667.1:g.13752267G= GRCh37
NC_000005.8:g.13805267G= NCBI36
NG_013081.1:g.197323C=
NG_013081.2:g.197323C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11004C= MANE Select ENSP00000265104.4:p.Phe3668=
ENST00000681290.1:c.10959C= ENSP00000505288.1:p.Phe3653=
ENST00000265104.4:c.11004C= ENSP00000265104.4:p.Phe3668=
NM_001369.2:c.11004C= NP_001360.1:p.Phe3668=
XM_005248262.2:c.10959C= XP_005248319.1:p.Phe3653=
XM_005248262.3:c.11112C= XP_005248319.2:p.Phe3704=
XM_017009177.1:c.11112C= XP_016864666.1:p.Phe3704=
XM_017009178.1:c.10017C= XP_016864667.1:p.Phe3339=
XM_017009179.2:c.10017C= XP_016864668.1:p.Phe3339=
XM_017009180.1:c.11112C= XP_016864669.1:p.Phe3704=
XM_017009181.1:c.11112C= XP_016864670.1:p.Phe3704=
XM_017009182.1:c.11112C= XP_016864671.1:p.Phe3704=
XM_017009185.1:c.6201C= XP_016864674.1:p.Phe2067=
XM_017009186.1:c.5754C= XP_016864675.1:p.Phe1918=
XM_017009188.1:c.5091C= XP_016864677.1:p.Phe1697=
XM_024454388.1:c.10017C= XP_024310156.1:p.Phe3339=
XM_024454389.1:c.9606C= XP_024310157.1:p.Phe3202=
NM_001369.3:c.11004C= MANE Select NP_001360.1:p.Phe3668=