Canonical Allele Identifier: CA3202846

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792131G>A , CM000667.2:g.13792131G>A	GRCh38
NC_000005.9:g.13792240G>A , CM000667.1:g.13792240G>A	GRCh37
NC_000005.8:g.13845240G>A	NCBI36
NG_013081.1:g.157350C>T
NG_013081.2:g.157350C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8311C>T MANE Select	NP_001360.1:p.Arg2771Cys
ENST00000265104.5:c.8311C>T MANE Select	ENSP00000265104.4:p.Arg2771Cys
NM_001369.2:c.8311C>T	NP_001360.1:p.Arg2771Cys
ENST00000265104.4:c.8311C>T	ENSP00000265104.4:p.Arg2771Cys
ENST00000681290.1:c.8266C>T	ENSP00000505288.1:p.Arg2756Cys
XM_005248262.2:c.8266C>T	XP_005248319.1:p.Arg2756Cys
XM_005248262.3:c.8419C>T	XP_005248319.2:p.Arg2807Cys
XM_011513990.1:c.8311C>T	XP_011512292.1:p.Arg2771Cys
XM_017009177.1:c.8419C>T	XP_016864666.1:p.Arg2807Cys
XM_017009178.1:c.7324C>T	XP_016864667.1:p.Arg2442Cys
XM_017009179.2:c.7324C>T	XP_016864668.1:p.Arg2442Cys
XM_017009180.1:c.8419C>T	XP_016864669.1:p.Arg2807Cys
XM_017009181.1:c.8419C>T	XP_016864670.1:p.Arg2807Cys
XM_017009182.1:c.8419C>T	XP_016864671.1:p.Arg2807Cys
XM_017009183.1:c.8419C>T	XP_016864672.1:p.Arg2807Cys
XM_017009184.1:c.8419C>T	XP_016864673.1:p.Arg2807Cys
XM_017009185.1:c.3508C>T	XP_016864674.1:p.Arg1170Cys
XM_017009186.1:c.3061C>T	XP_016864675.1:p.Arg1021Cys
XM_017009188.1:c.2398C>T	XP_016864677.1:p.Arg800Cys
XM_024454388.1:c.7324C>T	XP_024310156.1:p.Arg2442Cys
XM_024454389.1:c.6913C>T	XP_024310157.1:p.Arg2305Cys
XR_001742034.1:n.8436C>T
XR_001742035.1:n.8436C>T
XR_925598.1:n.8518C>T