Canonical Allele Identifier: CA359219773

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13729465T>A , CM000667.2:g.13729465T>A	GRCh38
NC_000005.9:g.13729574T>A , CM000667.1:g.13729574T>A	GRCh37
NC_000005.8:g.13782574T>A	NCBI36
NG_013081.1:g.220016A>T
NG_013081.2:g.220016A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11857A>T MANE Select	NP_001360.1:p.Arg3953Ter
ENST00000265104.5:c.11857A>T MANE Select	ENSP00000265104.4:p.Arg3953Ter
NM_001369.2:c.11857A>T	NP_001360.1:p.Arg3953Ter
ENST00000265104.4:c.11857A>T	ENSP00000265104.4:p.Arg3953Ter
ENST00000681290.1:c.11812A>T	ENSP00000505288.1:p.Arg3938Ter
XM_005248262.2:c.11812A>T	XP_005248319.1:p.Arg3938Ter
XM_005248262.3:c.11965A>T	XP_005248319.2:p.Arg3989Ter
XM_017009177.1:c.11965A>T	XP_016864666.1:p.Arg3989Ter
XM_017009178.1:c.10870A>T	XP_016864667.1:p.Arg3624Ter
XM_017009179.2:c.10870A>T	XP_016864668.1:p.Arg3624Ter
XM_017009180.1:c.11965A>T	XP_016864669.1:p.Arg3989Ter
XM_017009181.1:c.11870-1809A>T	XP_016864670.1:n.11870-1809A>T
XM_017009185.1:c.7054A>T	XP_016864674.1:p.Arg2352Ter
XM_017009186.1:c.6607A>T	XP_016864675.1:p.Arg2203Ter
XM_017009188.1:c.5944A>T	XP_016864677.1:p.Arg1982Ter
XM_024454388.1:c.10870A>T	XP_024310156.1:p.Arg3624Ter
XM_024454389.1:c.10459A>T	XP_024310157.1:p.Arg3487Ter