Canonical Allele Identifier: CA113919237

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717424C>T , CM000667.2:g.13717424C>T	GRCh38
NC_000005.9:g.13717533C>T , CM000667.1:g.13717533C>T	GRCh37
NC_000005.8:g.13770533C>T	NCBI36
NG_013081.1:g.232057G>A
NG_013081.2:g.232057G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12596G>A MANE Select	NP_001360.1:p.Arg4199His
ENST00000265104.5:c.12596G>A MANE Select	ENSP00000265104.4:p.Arg4199His
NM_001369.2:c.12596G>A	NP_001360.1:p.Arg4199His
ENST00000265104.4:c.12596G>A	ENSP00000265104.4:p.Arg4199His
ENST00000681290.1:c.12551G>A	ENSP00000505288.1:p.Arg4184His
XM_005248262.2:c.12551G>A	XP_005248319.1:p.Arg4184His
XM_005248262.3:c.12704G>A	XP_005248319.2:p.Arg4235His
XM_017009177.1:c.12704G>A	XP_016864666.1:p.Arg4235His
XM_017009178.1:c.11609G>A	XP_016864667.1:p.Arg3870His
XM_017009179.2:c.11609G>A	XP_016864668.1:p.Arg3870His
XM_017009180.1:c.12704G>A	XP_016864669.1:p.Arg4235His
XM_017009185.1:c.7793G>A	XP_016864674.1:p.Arg2598His
XM_017009186.1:c.7346G>A	XP_016864675.1:p.Arg2449His
XM_017009188.1:c.6683G>A	XP_016864677.1:p.Arg2228His
XM_024454388.1:c.11609G>A	XP_024310156.1:p.Arg3870His
XM_024454389.1:c.11198G>A	XP_024310157.1:p.Arg3733His