Canonical Allele Identifier: CA1528430375
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769073C= , CM000667.2:g.13769073C= GRCh38
NC_000005.9:g.13769182C= , CM000667.1:g.13769182C= GRCh37
NC_000005.8:g.13822182C= NCBI36
NG_013081.1:g.180408G=
NG_013081.2:g.180408G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9784G= MANE Select ENSP00000265104.4:p.Val3262=
ENST00000681290.1:c.9739G= ENSP00000505288.1:p.Val3247=
ENST00000265104.4:c.9784G= ENSP00000265104.4:p.Val3262=
ENST00000504001.3:n.496G=
NM_001369.2:c.9784G= NP_001360.1:p.Val3262=
XM_005248262.2:c.9739G= XP_005248319.1:p.Val3247=
XM_005248262.3:c.9892G= XP_005248319.2:p.Val3298=
XM_017009177.1:c.9892G= XP_016864666.1:p.Val3298=
XM_017009178.1:c.8797G= XP_016864667.1:p.Val2933=
XM_017009179.2:c.8797G= XP_016864668.1:p.Val2933=
XM_017009180.1:c.9892G= XP_016864669.1:p.Val3298=
XM_017009181.1:c.9892G= XP_016864670.1:p.Val3298=
XM_017009182.1:c.9892G= XP_016864671.1:p.Val3298=
XM_017009185.1:c.4981G= XP_016864674.1:p.Val1661=
XM_017009186.1:c.4534G= XP_016864675.1:p.Val1512=
XM_017009188.1:c.3871G= XP_016864677.1:p.Val1291=
XM_024454388.1:c.8797G= XP_024310156.1:p.Val2933=
XM_024454389.1:c.8386G= XP_024310157.1:p.Val2796=
NM_001369.3:c.9784G= MANE Select NP_001360.1:p.Val3262=