Canonical Allele Identifier: CA3202606

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776688G>A , CM000667.2:g.13776688G>A	GRCh38
NC_000005.9:g.13776797G>A , CM000667.1:g.13776797G>A	GRCh37
NC_000005.8:g.13829797G>A	NCBI36
NG_013081.1:g.172793C>T
NG_013081.2:g.172793C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9124C>T MANE Select	NP_001360.1:p.Arg3042Ter
ENST00000265104.5:c.9124C>T MANE Select	ENSP00000265104.4:p.Arg3042Ter
NM_001369.2:c.9124C>T	NP_001360.1:p.Arg3042Ter
ENST00000265104.4:c.9124C>T	ENSP00000265104.4:p.Arg3042Ter
ENST00000681290.1:c.9079C>T	ENSP00000505288.1:p.Arg3027Ter
XM_005248262.2:c.9079C>T	XP_005248319.1:p.Arg3027Ter
XM_005248262.3:c.9232C>T	XP_005248319.2:p.Arg3078Ter
XM_011513990.1:c.*11C>T	XP_011512292.1:n.*11C>T
XM_017009177.1:c.9232C>T	XP_016864666.1:p.Arg3078Ter
XM_017009178.1:c.8137C>T	XP_016864667.1:p.Arg2713Ter
XM_017009179.2:c.8137C>T	XP_016864668.1:p.Arg2713Ter
XM_017009180.1:c.9232C>T	XP_016864669.1:p.Arg3078Ter
XM_017009181.1:c.9232C>T	XP_016864670.1:p.Arg3078Ter
XM_017009182.1:c.9232C>T	XP_016864671.1:p.Arg3078Ter
XM_017009183.1:c.9232C>T	XP_016864672.1:p.Arg3078Ter
XM_017009184.1:c.*11C>T	XP_016864673.1:n.*11C>T
XM_017009185.1:c.4321C>T	XP_016864674.1:p.Arg1441Ter
XM_017009186.1:c.3874C>T	XP_016864675.1:p.Arg1292Ter
XM_017009188.1:c.3211C>T	XP_016864677.1:p.Arg1071Ter
XM_024454388.1:c.8137C>T	XP_024310156.1:p.Arg2713Ter
XM_024454389.1:c.7726C>T	XP_024310157.1:p.Arg2576Ter
XR_001742034.1:n.9118C>T
XR_001742035.1:n.9113C>T
XR_925598.1:n.9195C>T