Canonical Allele Identifier: CA1528422946
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752214C= , CM000667.2:g.13752214C= GRCh38
NC_000005.9:g.13752323C= , CM000667.1:g.13752323C= GRCh37
NC_000005.8:g.13805323C= NCBI36
NG_013081.1:g.197267G=
NG_013081.2:g.197267G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10948G= MANE Select ENSP00000265104.4:p.Glu3650=
ENST00000681290.1:c.10903G= ENSP00000505288.1:p.Glu3635=
ENST00000265104.4:c.10948G= ENSP00000265104.4:p.Glu3650=
NM_001369.2:c.10948G= NP_001360.1:p.Glu3650=
XM_005248262.2:c.10903G= XP_005248319.1:p.Glu3635=
XM_005248262.3:c.11056G= XP_005248319.2:p.Glu3686=
XM_017009177.1:c.11056G= XP_016864666.1:p.Glu3686=
XM_017009178.1:c.9961G= XP_016864667.1:p.Glu3321=
XM_017009179.2:c.9961G= XP_016864668.1:p.Glu3321=
XM_017009180.1:c.11056G= XP_016864669.1:p.Glu3686=
XM_017009181.1:c.11056G= XP_016864670.1:p.Glu3686=
XM_017009182.1:c.11056G= XP_016864671.1:p.Glu3686=
XM_017009185.1:c.6145G= XP_016864674.1:p.Glu2049=
XM_017009186.1:c.5698G= XP_016864675.1:p.Glu1900=
XM_017009188.1:c.5035G= XP_016864677.1:p.Glu1679=
XM_024454388.1:c.9961G= XP_024310156.1:p.Glu3321=
XM_024454389.1:c.9550G= XP_024310157.1:p.Glu3184=
NM_001369.3:c.10948G= MANE Select NP_001360.1:p.Glu3650=