Canonical Allele Identifier: CA359221624

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793709C>G , CM000667.2:g.13793709C>G	GRCh38
NC_000005.9:g.13793818C>G , CM000667.1:g.13793818C>G	GRCh37
NC_000005.8:g.13846818C>G	NCBI36
NG_013081.1:g.155772G>C
NG_013081.2:g.155772G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8030G>C MANE Select	NP_001360.1:p.Arg2677Pro
ENST00000265104.5:c.8030G>C MANE Select	ENSP00000265104.4:p.Arg2677Pro
NM_001369.2:c.8030G>C	NP_001360.1:p.Arg2677Pro
ENST00000265104.4:c.8030G>C	ENSP00000265104.4:p.Arg2677Pro
ENST00000681290.1:c.7985G>C	ENSP00000505288.1:p.Arg2662Pro
XM_005248262.2:c.7985G>C	XP_005248319.1:p.Arg2662Pro
XM_005248262.3:c.8138G>C	XP_005248319.2:p.Arg2713Pro
XM_011513990.1:c.8030G>C	XP_011512292.1:p.Arg2677Pro
XM_017009177.1:c.8138G>C	XP_016864666.1:p.Arg2713Pro
XM_017009178.1:c.7043G>C	XP_016864667.1:p.Arg2348Pro
XM_017009179.2:c.7043G>C	XP_016864668.1:p.Arg2348Pro
XM_017009180.1:c.8138G>C	XP_016864669.1:p.Arg2713Pro
XM_017009181.1:c.8138G>C	XP_016864670.1:p.Arg2713Pro
XM_017009182.1:c.8138G>C	XP_016864671.1:p.Arg2713Pro
XM_017009183.1:c.8138G>C	XP_016864672.1:p.Arg2713Pro
XM_017009184.1:c.8138G>C	XP_016864673.1:p.Arg2713Pro
XM_017009185.1:c.3227G>C	XP_016864674.1:p.Arg1076Pro
XM_017009186.1:c.2780G>C	XP_016864675.1:p.Arg927Pro
XM_017009188.1:c.2117G>C	XP_016864677.1:p.Arg706Pro
XM_024454388.1:c.7043G>C	XP_024310156.1:p.Arg2348Pro
XM_024454389.1:c.6632G>C	XP_024310157.1:p.Arg2211Pro
XR_001742034.1:n.8155G>C
XR_001742035.1:n.8155G>C
XR_925598.1:n.8237G>C