Canonical Allele Identifier: CA359215720

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13786340C>A , CM000667.2:g.13786340C>A	GRCh38
NC_000005.9:g.13786449C>A , CM000667.1:g.13786449C>A	GRCh37
NC_000005.8:g.13839449C>A	NCBI36
NG_013081.1:g.163141G>T
NG_013081.2:g.163141G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8659G>T MANE Select	NP_001360.1:p.Glu2887Ter
ENST00000265104.5:c.8659G>T MANE Select	ENSP00000265104.4:p.Glu2887Ter
NM_001369.2:c.8659G>T	NP_001360.1:p.Glu2887Ter
ENST00000265104.4:c.8659G>T	ENSP00000265104.4:p.Glu2887Ter
ENST00000681290.1:c.8614G>T	ENSP00000505288.1:p.Glu2872Ter
XM_005248262.2:c.8614G>T	XP_005248319.1:p.Glu2872Ter
XM_005248262.3:c.8767G>T	XP_005248319.2:p.Glu2923Ter
XM_011513990.1:c.8659G>T	XP_011512292.1:p.Glu2887Ter
XM_017009177.1:c.8767G>T	XP_016864666.1:p.Glu2923Ter
XM_017009178.1:c.7672G>T	XP_016864667.1:p.Glu2558Ter
XM_017009179.2:c.7672G>T	XP_016864668.1:p.Glu2558Ter
XM_017009180.1:c.8767G>T	XP_016864669.1:p.Glu2923Ter
XM_017009181.1:c.8767G>T	XP_016864670.1:p.Glu2923Ter
XM_017009182.1:c.8767G>T	XP_016864671.1:p.Glu2923Ter
XM_017009183.1:c.8767G>T	XP_016864672.1:p.Glu2923Ter
XM_017009184.1:c.8767G>T	XP_016864673.1:p.Glu2923Ter
XM_017009185.1:c.3856G>T	XP_016864674.1:p.Glu1286Ter
XM_017009186.1:c.3409G>T	XP_016864675.1:p.Glu1137Ter
XM_017009188.1:c.2746G>T	XP_016864677.1:p.Glu916Ter
XM_024454388.1:c.7672G>T	XP_024310156.1:p.Glu2558Ter
XM_024454389.1:c.7261G>T	XP_024310157.1:p.Glu2421Ter
XR_001742034.1:n.8784G>T
XR_001742035.1:n.8784G>T
XR_925598.1:n.8866G>T