Canonical Allele Identifier: CA359201770
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769027T>C , CM000667.2:g.13769027T>C GRCh38
NC_000005.9:g.13769136T>C , CM000667.1:g.13769136T>C GRCh37
NC_000005.8:g.13822136T>C NCBI36
NG_013081.1:g.180454A>G
NG_013081.2:g.180454A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9830A>G MANE Select ENSP00000265104.4:p.Lys3277Arg
ENST00000681290.1:c.9785A>G ENSP00000505288.1:p.Lys3262Arg
ENST00000265104.4:c.9830A>G ENSP00000265104.4:p.Lys3277Arg
ENST00000504001.3:n.542A>G
NM_001369.2:c.9830A>G NP_001360.1:p.Lys3277Arg
XM_005248262.2:c.9785A>G XP_005248319.1:p.Lys3262Arg
XM_005248262.3:c.9938A>G XP_005248319.2:p.Lys3313Arg
XM_017009177.1:c.9938A>G XP_016864666.1:p.Lys3313Arg
XM_017009178.1:c.8843A>G XP_016864667.1:p.Lys2948Arg
XM_017009179.2:c.8843A>G XP_016864668.1:p.Lys2948Arg
XM_017009180.1:c.9938A>G XP_016864669.1:p.Lys3313Arg
XM_017009181.1:c.9938A>G XP_016864670.1:p.Lys3313Arg
XM_017009182.1:c.9938A>G XP_016864671.1:p.Lys3313Arg
XM_017009185.1:c.5027A>G XP_016864674.1:p.Lys1676Arg
XM_017009186.1:c.4580A>G XP_016864675.1:p.Lys1527Arg
XM_017009188.1:c.3917A>G XP_016864677.1:p.Lys1306Arg
XM_024454388.1:c.8843A>G XP_024310156.1:p.Lys2948Arg
XM_024454389.1:c.8432A>G XP_024310157.1:p.Lys2811Arg
NM_001369.3:c.9830A>G MANE Select NP_001360.1:p.Lys3277Arg