Canonical Allele Identifier: CA3204581

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13891097C>G , CM000667.2:g.13891097C>G	GRCh38
NC_000005.9:g.13891206C>G , CM000667.1:g.13891206C>G	GRCh37
NC_000005.8:g.13944206C>G	NCBI36
NG_013081.1:g.58384G>C
NG_013081.2:g.58384G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.2456G>C MANE Select	NP_001360.1:p.Arg819Thr
ENST00000265104.5:c.2456G>C MANE Select	ENSP00000265104.4:p.Arg819Thr
NM_001369.2:c.2456G>C	NP_001360.1:p.Arg819Thr
ENST00000265104.4:c.2456G>C	ENSP00000265104.4:p.Arg819Thr
ENST00000681290.1:c.2411G>C	ENSP00000505288.1:p.Arg804Thr
XM_005248262.2:c.2411G>C	XP_005248319.1:p.Arg804Thr
XM_005248262.3:c.2564G>C	XP_005248319.2:p.Arg855Thr
XM_011513990.1:c.2456G>C	XP_011512292.1:p.Arg819Thr
XM_017009177.1:c.2564G>C	XP_016864666.1:p.Arg855Thr
XM_017009178.1:c.1469G>C	XP_016864667.1:p.Arg490Thr
XM_017009179.2:c.1469G>C	XP_016864668.1:p.Arg490Thr
XM_017009180.1:c.2564G>C	XP_016864669.1:p.Arg855Thr
XM_017009181.1:c.2564G>C	XP_016864670.1:p.Arg855Thr
XM_017009182.1:c.2564G>C	XP_016864671.1:p.Arg855Thr
XM_017009183.1:c.2564G>C	XP_016864672.1:p.Arg855Thr
XM_017009184.1:c.2564G>C	XP_016864673.1:p.Arg855Thr
XM_017009187.1:c.2564G>C	XP_016864676.1:p.Arg855Thr
XM_024454388.1:c.1469G>C	XP_024310156.1:p.Arg490Thr
XM_024454389.1:c.1058G>C	XP_024310157.1:p.Arg353Thr
XR_001742034.1:n.2581G>C
XR_001742035.1:n.2581G>C
XR_925598.1:n.2663G>C