Canonical Allele Identifier: CA1528431212
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770851C= , CM000667.2:g.13770851C= GRCh38
NC_000005.9:g.13770960C= , CM000667.1:g.13770960C= GRCh37
NC_000005.8:g.13823960C= NCBI36
NG_013081.1:g.178630G=
NG_013081.2:g.178630G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9503G= MANE Select ENSP00000265104.4:p.Arg3168=
ENST00000681290.1:c.9458G= ENSP00000505288.1:p.Arg3153=
ENST00000265104.4:c.9503G= ENSP00000265104.4:p.Arg3168=
ENST00000504001.3:n.215G=
NM_001369.2:c.9503G= NP_001360.1:p.Arg3168=
XM_005248262.2:c.9458G= XP_005248319.1:p.Arg3153=
XM_005248262.3:c.9611G= XP_005248319.2:p.Arg3204=
XM_017009177.1:c.9611G= XP_016864666.1:p.Arg3204=
XM_017009178.1:c.8516G= XP_016864667.1:p.Arg2839=
XM_017009179.2:c.8516G= XP_016864668.1:p.Arg2839=
XM_017009180.1:c.9611G= XP_016864669.1:p.Arg3204=
XM_017009181.1:c.9611G= XP_016864670.1:p.Arg3204=
XM_017009182.1:c.9611G= XP_016864671.1:p.Arg3204=
XM_017009183.1:c.9611G= XP_016864672.1:p.Arg3204=
XM_017009185.1:c.4700G= XP_016864674.1:p.Arg1567=
XM_017009186.1:c.4253G= XP_016864675.1:p.Arg1418=
XM_017009188.1:c.3590G= XP_016864677.1:p.Arg1197=
XM_024454388.1:c.8516G= XP_024310156.1:p.Arg2839=
XM_024454389.1:c.8105G= XP_024310157.1:p.Arg2702=
NM_001369.3:c.9503G= MANE Select NP_001360.1:p.Arg3168=