Canonical Allele Identifier: CA3203182

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13814737C>G , CM000667.2:g.13814737C>G	GRCh38
NC_000005.9:g.13814846C>G , CM000667.1:g.13814846C>G	GRCh37
NC_000005.8:g.13867846C>G	NCBI36
NG_013081.1:g.134744G>C
NG_013081.2:g.134744G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7098G>C MANE Select	NP_001360.1:p.Arg2366=
ENST00000265104.5:c.7098G>C MANE Select	ENSP00000265104.4:p.Arg2366=
NM_001369.2:c.7098G>C	NP_001360.1:p.Arg2366=
ENST00000265104.4:c.7098G>C	ENSP00000265104.4:p.Arg2366=
ENST00000681290.1:c.7053G>C	ENSP00000505288.1:p.Arg2351=
XM_005248262.2:c.7053G>C	XP_005248319.1:p.Arg2351=
XM_005248262.3:c.7206G>C	XP_005248319.2:p.Arg2402=
XM_011513990.1:c.7098G>C	XP_011512292.1:p.Arg2366=
XM_017009177.1:c.7206G>C	XP_016864666.1:p.Arg2402=
XM_017009178.1:c.6111G>C	XP_016864667.1:p.Arg2037=
XM_017009179.2:c.6111G>C	XP_016864668.1:p.Arg2037=
XM_017009180.1:c.7206G>C	XP_016864669.1:p.Arg2402=
XM_017009181.1:c.7206G>C	XP_016864670.1:p.Arg2402=
XM_017009182.1:c.7206G>C	XP_016864671.1:p.Arg2402=
XM_017009183.1:c.7206G>C	XP_016864672.1:p.Arg2402=
XM_017009184.1:c.7206G>C	XP_016864673.1:p.Arg2402=
XM_017009185.1:c.2295G>C	XP_016864674.1:p.Arg765=
XM_017009186.1:c.1848G>C	XP_016864675.1:p.Arg616=
XM_017009187.1:c.7206G>C	XP_016864676.1:p.Arg2402=
XM_017009188.1:c.1185G>C	XP_016864677.1:p.Arg395=
XM_024454388.1:c.6111G>C	XP_024310156.1:p.Arg2037=
XM_024454389.1:c.5700G>C	XP_024310157.1:p.Arg1900=
XR_001742034.1:n.7223G>C
XR_001742035.1:n.7223G>C
XR_925598.1:n.7305G>C