Canonical Allele Identifier: CA113933156

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770975C>A , CM000667.2:g.13770975C>A	GRCh38
NC_000005.9:g.13771084C>A , CM000667.1:g.13771084C>A	GRCh37
NC_000005.8:g.13824084C>A	NCBI36
NG_013081.1:g.178506G>T
NG_013081.2:g.178506G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9379G>T MANE Select	NP_001360.1:p.Glu3127Ter
ENST00000265104.5:c.9379G>T MANE Select	ENSP00000265104.4:p.Glu3127Ter
NM_001369.2:c.9379G>T	NP_001360.1:p.Glu3127Ter
ENST00000265104.4:c.9379G>T	ENSP00000265104.4:p.Glu3127Ter
ENST00000504001.3:n.91G>T
ENST00000681290.1:c.9334G>T	ENSP00000505288.1:p.Glu3112Ter
XM_005248262.2:c.9334G>T	XP_005248319.1:p.Glu3112Ter
XM_005248262.3:c.9487G>T	XP_005248319.2:p.Glu3163Ter
XM_017009177.1:c.9487G>T	XP_016864666.1:p.Glu3163Ter
XM_017009178.1:c.8392G>T	XP_016864667.1:p.Glu2798Ter
XM_017009179.2:c.8392G>T	XP_016864668.1:p.Glu2798Ter
XM_017009180.1:c.9487G>T	XP_016864669.1:p.Glu3163Ter
XM_017009181.1:c.9487G>T	XP_016864670.1:p.Glu3163Ter
XM_017009182.1:c.9487G>T	XP_016864671.1:p.Glu3163Ter
XM_017009183.1:c.9487G>T	XP_016864672.1:p.Glu3163Ter
XM_017009185.1:c.4576G>T	XP_016864674.1:p.Glu1526Ter
XM_017009186.1:c.4129G>T	XP_016864675.1:p.Glu1377Ter
XM_017009188.1:c.3466G>T	XP_016864677.1:p.Glu1156Ter
XM_024454388.1:c.8392G>T	XP_024310156.1:p.Glu2798Ter
XM_024454389.1:c.7981G>T	XP_024310157.1:p.Glu2661Ter