Canonical Allele Identifier: CA3201891

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735276G>C , CM000667.2:g.13735276G>C	GRCh38
NC_000005.9:g.13735385G>C , CM000667.1:g.13735385G>C	GRCh37
NC_000005.8:g.13788385G>C	NCBI36
NG_013081.1:g.214205C>G
NG_013081.2:g.214205C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11616C>G MANE Select	NP_001360.1:p.Ile3872Met
ENST00000265104.5:c.11616C>G MANE Select	ENSP00000265104.4:p.Ile3872Met
NM_001369.2:c.11616C>G	NP_001360.1:p.Ile3872Met
ENST00000265104.4:c.11616C>G	ENSP00000265104.4:p.Ile3872Met
ENST00000681290.1:c.11571C>G	ENSP00000505288.1:p.Ile3857Met
XM_005248262.2:c.11571C>G	XP_005248319.1:p.Ile3857Met
XM_005248262.3:c.11724C>G	XP_005248319.2:p.Ile3908Met
XM_017009177.1:c.11724C>G	XP_016864666.1:p.Ile3908Met
XM_017009178.1:c.10629C>G	XP_016864667.1:p.Ile3543Met
XM_017009179.2:c.10629C>G	XP_016864668.1:p.Ile3543Met
XM_017009180.1:c.11724C>G	XP_016864669.1:p.Ile3908Met
XM_017009181.1:c.11724C>G	XP_016864670.1:p.Ile3908Met
XM_017009182.1:c.*50C>G	XP_016864671.1:n.*50C>G
XM_017009185.1:c.6813C>G	XP_016864674.1:p.Ile2271Met
XM_017009186.1:c.6366C>G	XP_016864675.1:p.Ile2122Met
XM_017009188.1:c.5703C>G	XP_016864677.1:p.Ile1901Met
XM_024454388.1:c.10629C>G	XP_024310156.1:p.Ile3543Met
XM_024454389.1:c.10218C>G	XP_024310157.1:p.Ile3406Met