Canonical Allele Identifier: CA359220348

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13729537C>T , CM000667.2:g.13729537C>T	GRCh38
NC_000005.9:g.13729646C>T , CM000667.1:g.13729646C>T	GRCh37
NC_000005.8:g.13782646C>T	NCBI36
NG_013081.1:g.219944G>A
NG_013081.2:g.219944G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11785G>A MANE Select	NP_001360.1:p.Ala3929Thr
ENST00000265104.5:c.11785G>A MANE Select	ENSP00000265104.4:p.Ala3929Thr
NM_001369.2:c.11785G>A	NP_001360.1:p.Ala3929Thr
ENST00000265104.4:c.11785G>A	ENSP00000265104.4:p.Ala3929Thr
ENST00000681290.1:c.11740G>A	ENSP00000505288.1:p.Ala3914Thr
XM_005248262.2:c.11740G>A	XP_005248319.1:p.Ala3914Thr
XM_005248262.3:c.11893G>A	XP_005248319.2:p.Ala3965Thr
XM_017009177.1:c.11893G>A	XP_016864666.1:p.Ala3965Thr
XM_017009178.1:c.10798G>A	XP_016864667.1:p.Ala3600Thr
XM_017009179.2:c.10798G>A	XP_016864668.1:p.Ala3600Thr
XM_017009180.1:c.11893G>A	XP_016864669.1:p.Ala3965Thr
XM_017009181.1:c.11870-1881G>A	XP_016864670.1:n.11870-1881G>A
XM_017009185.1:c.6982G>A	XP_016864674.1:p.Ala2328Thr
XM_017009186.1:c.6535G>A	XP_016864675.1:p.Ala2179Thr
XM_017009188.1:c.5872G>A	XP_016864677.1:p.Ala1958Thr
XM_024454388.1:c.10798G>A	XP_024310156.1:p.Ala3600Thr
XM_024454389.1:c.10387G>A	XP_024310157.1:p.Ala3463Thr