Canonical Allele Identifier: CA359190822

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13814738C>T , CM000667.2:g.13814738C>T	GRCh38
NC_000005.9:g.13814847C>T , CM000667.1:g.13814847C>T	GRCh37
NC_000005.8:g.13867847C>T	NCBI36
NG_013081.1:g.134743G>A
NG_013081.2:g.134743G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7097G>A MANE Select	NP_001360.1:p.Arg2366Gln
ENST00000265104.5:c.7097G>A MANE Select	ENSP00000265104.4:p.Arg2366Gln
NM_001369.2:c.7097G>A	NP_001360.1:p.Arg2366Gln
ENST00000265104.4:c.7097G>A	ENSP00000265104.4:p.Arg2366Gln
ENST00000681290.1:c.7052G>A	ENSP00000505288.1:p.Arg2351Gln
XM_005248262.2:c.7052G>A	XP_005248319.1:p.Arg2351Gln
XM_005248262.3:c.7205G>A	XP_005248319.2:p.Arg2402Gln
XM_011513990.1:c.7097G>A	XP_011512292.1:p.Arg2366Gln
XM_017009177.1:c.7205G>A	XP_016864666.1:p.Arg2402Gln
XM_017009178.1:c.6110G>A	XP_016864667.1:p.Arg2037Gln
XM_017009179.2:c.6110G>A	XP_016864668.1:p.Arg2037Gln
XM_017009180.1:c.7205G>A	XP_016864669.1:p.Arg2402Gln
XM_017009181.1:c.7205G>A	XP_016864670.1:p.Arg2402Gln
XM_017009182.1:c.7205G>A	XP_016864671.1:p.Arg2402Gln
XM_017009183.1:c.7205G>A	XP_016864672.1:p.Arg2402Gln
XM_017009184.1:c.7205G>A	XP_016864673.1:p.Arg2402Gln
XM_017009185.1:c.2294G>A	XP_016864674.1:p.Arg765Gln
XM_017009186.1:c.1847G>A	XP_016864675.1:p.Arg616Gln
XM_017009187.1:c.7205G>A	XP_016864676.1:p.Arg2402Gln
XM_017009188.1:c.1184G>A	XP_016864677.1:p.Arg395Gln
XM_024454388.1:c.6110G>A	XP_024310156.1:p.Arg2037Gln
XM_024454389.1:c.5699G>A	XP_024310157.1:p.Arg1900Gln
XR_001742034.1:n.7222G>A
XR_001742035.1:n.7222G>A
XR_925598.1:n.7304G>A