Canonical Allele Identifier: CA3202046

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13751160C>T , CM000667.2:g.13751160C>T	GRCh38
NC_000005.9:g.13751269C>T , CM000667.1:g.13751269C>T	GRCh37
NC_000005.8:g.13804269C>T	NCBI36
NG_013081.1:g.198321G>A
NG_013081.2:g.198321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11129G>A MANE Select	NP_001360.1:p.Arg3710His
ENST00000265104.5:c.11129G>A MANE Select	ENSP00000265104.4:p.Arg3710His
NM_001369.2:c.11129G>A	NP_001360.1:p.Arg3710His
ENST00000265104.4:c.11129G>A	ENSP00000265104.4:p.Arg3710His
ENST00000681290.1:c.11084G>A	ENSP00000505288.1:p.Arg3695His
XM_005248262.2:c.11084G>A	XP_005248319.1:p.Arg3695His
XM_005248262.3:c.11237G>A	XP_005248319.2:p.Arg3746His
XM_017009177.1:c.11237G>A	XP_016864666.1:p.Arg3746His
XM_017009178.1:c.10142G>A	XP_016864667.1:p.Arg3381His
XM_017009179.2:c.10142G>A	XP_016864668.1:p.Arg3381His
XM_017009180.1:c.11237G>A	XP_016864669.1:p.Arg3746His
XM_017009181.1:c.11237G>A	XP_016864670.1:p.Arg3746His
XM_017009182.1:c.11237G>A	XP_016864671.1:p.Arg3746His
XM_017009185.1:c.6326G>A	XP_016864674.1:p.Arg2109His
XM_017009186.1:c.5879G>A	XP_016864675.1:p.Arg1960His
XM_017009188.1:c.5216G>A	XP_016864677.1:p.Arg1739His
XM_024454388.1:c.10142G>A	XP_024310156.1:p.Arg3381His
XM_024454389.1:c.9731G>A	XP_024310157.1:p.Arg3244His