Canonical Allele Identifier: CA3202545

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770927T>A , CM000667.2:g.13770927T>A	GRCh38
NC_000005.9:g.13771036T>A , CM000667.1:g.13771036T>A	GRCh37
NC_000005.8:g.13824036T>A	NCBI36
NG_013081.1:g.178554A>T
NG_013081.2:g.178554A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9427A>T MANE Select	NP_001360.1:p.Lys3143Ter
ENST00000265104.5:c.9427A>T MANE Select	ENSP00000265104.4:p.Lys3143Ter
NM_001369.2:c.9427A>T	NP_001360.1:p.Lys3143Ter
ENST00000265104.4:c.9427A>T	ENSP00000265104.4:p.Lys3143Ter
ENST00000504001.3:n.139A>T
ENST00000681290.1:c.9382A>T	ENSP00000505288.1:p.Lys3128Ter
XM_005248262.2:c.9382A>T	XP_005248319.1:p.Lys3128Ter
XM_005248262.3:c.9535A>T	XP_005248319.2:p.Lys3179Ter
XM_017009177.1:c.9535A>T	XP_016864666.1:p.Lys3179Ter
XM_017009178.1:c.8440A>T	XP_016864667.1:p.Lys2814Ter
XM_017009179.2:c.8440A>T	XP_016864668.1:p.Lys2814Ter
XM_017009180.1:c.9535A>T	XP_016864669.1:p.Lys3179Ter
XM_017009181.1:c.9535A>T	XP_016864670.1:p.Lys3179Ter
XM_017009182.1:c.9535A>T	XP_016864671.1:p.Lys3179Ter
XM_017009183.1:c.9535A>T	XP_016864672.1:p.Lys3179Ter
XM_017009185.1:c.4624A>T	XP_016864674.1:p.Lys1542Ter
XM_017009186.1:c.4177A>T	XP_016864675.1:p.Lys1393Ter
XM_017009188.1:c.3514A>T	XP_016864677.1:p.Lys1172Ter
XM_024454388.1:c.8440A>T	XP_024310156.1:p.Lys2814Ter
XM_024454389.1:c.8029A>T	XP_024310157.1:p.Lys2677Ter