Canonical Allele Identifier: CA359213795

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844862A>G , CM000667.2:g.13844862A>G	GRCh38
NC_000005.9:g.13844971A>G , CM000667.1:g.13844971A>G	GRCh37
NC_000005.8:g.13897971A>G	NCBI36
NG_013081.1:g.104619T>C
NG_013081.2:g.104619T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.5246T>C MANE Select	NP_001360.1:p.Ile1749Thr
ENST00000265104.5:c.5246T>C MANE Select	ENSP00000265104.4:p.Ile1749Thr
NM_001369.2:c.5246T>C	NP_001360.1:p.Ile1749Thr
ENST00000265104.4:c.5246T>C	ENSP00000265104.4:p.Ile1749Thr
ENST00000681290.1:c.5201T>C	ENSP00000505288.1:p.Ile1734Thr
XM_005248262.2:c.5201T>C	XP_005248319.1:p.Ile1734Thr
XM_005248262.3:c.5354T>C	XP_005248319.2:p.Ile1785Thr
XM_011513990.1:c.5246T>C	XP_011512292.1:p.Ile1749Thr
XM_017009177.1:c.5354T>C	XP_016864666.1:p.Ile1785Thr
XM_017009178.1:c.4259T>C	XP_016864667.1:p.Ile1420Thr
XM_017009179.2:c.4259T>C	XP_016864668.1:p.Ile1420Thr
XM_017009180.1:c.5354T>C	XP_016864669.1:p.Ile1785Thr
XM_017009181.1:c.5354T>C	XP_016864670.1:p.Ile1785Thr
XM_017009182.1:c.5354T>C	XP_016864671.1:p.Ile1785Thr
XM_017009183.1:c.5354T>C	XP_016864672.1:p.Ile1785Thr
XM_017009184.1:c.5354T>C	XP_016864673.1:p.Ile1785Thr
XM_017009185.1:c.443T>C	XP_016864674.1:p.Ile148Thr
XM_017009186.1:c.22-2958T>C	XP_016864675.1:n.22-2958T>C
XM_017009187.1:c.5354T>C	XP_016864676.1:p.Ile1785Thr
XM_024454388.1:c.4259T>C	XP_024310156.1:p.Ile1420Thr
XM_024454389.1:c.3848T>C	XP_024310157.1:p.Ile1283Thr
XR_001742034.1:n.5371T>C
XR_001742035.1:n.5371T>C
XR_925598.1:n.5453T>C