Canonical Allele Identifier: CA359194849

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13820430T>A , CM000667.2:g.13820430T>A	GRCh38
NC_000005.9:g.13820539T>A , CM000667.1:g.13820539T>A	GRCh37
NC_000005.8:g.13873539T>A	NCBI36
NG_013081.1:g.129051A>T
NG_013081.2:g.129051A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6757A>T MANE Select	NP_001360.1:p.Arg2253Ter
ENST00000265104.5:c.6757A>T MANE Select	ENSP00000265104.4:p.Arg2253Ter
NM_001369.2:c.6757A>T	NP_001360.1:p.Arg2253Ter
ENST00000265104.4:c.6757A>T	ENSP00000265104.4:p.Arg2253Ter
ENST00000681290.1:c.6712A>T	ENSP00000505288.1:p.Arg2238Ter
ENST00000683090.1:n.1688A>T
XM_005248262.2:c.6712A>T	XP_005248319.1:p.Arg2238Ter
XM_005248262.3:c.6865A>T	XP_005248319.2:p.Arg2289Ter
XM_011513990.1:c.6757A>T	XP_011512292.1:p.Arg2253Ter
XM_017009177.1:c.6865A>T	XP_016864666.1:p.Arg2289Ter
XM_017009178.1:c.5770A>T	XP_016864667.1:p.Arg1924Ter
XM_017009179.2:c.5770A>T	XP_016864668.1:p.Arg1924Ter
XM_017009180.1:c.6865A>T	XP_016864669.1:p.Arg2289Ter
XM_017009181.1:c.6865A>T	XP_016864670.1:p.Arg2289Ter
XM_017009182.1:c.6865A>T	XP_016864671.1:p.Arg2289Ter
XM_017009183.1:c.6865A>T	XP_016864672.1:p.Arg2289Ter
XM_017009184.1:c.6865A>T	XP_016864673.1:p.Arg2289Ter
XM_017009185.1:c.1954A>T	XP_016864674.1:p.Arg652Ter
XM_017009186.1:c.1507A>T	XP_016864675.1:p.Arg503Ter
XM_017009187.1:c.6865A>T	XP_016864676.1:p.Arg2289Ter
XM_017009188.1:c.844A>T	XP_016864677.1:p.Arg282Ter
XM_024454388.1:c.5770A>T	XP_024310156.1:p.Arg1924Ter
XM_024454389.1:c.5359A>T	XP_024310157.1:p.Arg1787Ter
XR_001742034.1:n.6882A>T
XR_001742035.1:n.6882A>T
XR_925598.1:n.6964A>T