Canonical Allele Identifier: CA359210516

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13777242G>T , CM000667.2:g.13777242G>T	GRCh38
NC_000005.9:g.13777351G>T , CM000667.1:g.13777351G>T	GRCh37
NC_000005.8:g.13830351G>T	NCBI36
NG_013081.1:g.172239C>A
NG_013081.2:g.172239C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9065C>A MANE Select	NP_001360.1:p.Ser3022Ter
ENST00000265104.5:c.9065C>A MANE Select	ENSP00000265104.4:p.Ser3022Ter
NM_001369.2:c.9065C>A	NP_001360.1:p.Ser3022Ter
ENST00000265104.4:c.9065C>A	ENSP00000265104.4:p.Ser3022Ter
ENST00000681290.1:c.9020C>A	ENSP00000505288.1:p.Ser3007Ter
XM_005248262.2:c.9020C>A	XP_005248319.1:p.Ser3007Ter
XM_005248262.3:c.9173C>A	XP_005248319.2:p.Ser3058Ter
XM_011513990.1:c.9065C>A	XP_011512292.1:p.Ser3022Ter
XM_017009177.1:c.9173C>A	XP_016864666.1:p.Ser3058Ter
XM_017009178.1:c.8078C>A	XP_016864667.1:p.Ser2693Ter
XM_017009179.2:c.8078C>A	XP_016864668.1:p.Ser2693Ter
XM_017009180.1:c.9173C>A	XP_016864669.1:p.Ser3058Ter
XM_017009181.1:c.9173C>A	XP_016864670.1:p.Ser3058Ter
XM_017009182.1:c.9173C>A	XP_016864671.1:p.Ser3058Ter
XM_017009183.1:c.9173C>A	XP_016864672.1:p.Ser3058Ter
XM_017009184.1:c.9173C>A	XP_016864673.1:p.Ser3058Ter
XM_017009185.1:c.4262C>A	XP_016864674.1:p.Ser1421Ter
XM_017009186.1:c.3815C>A	XP_016864675.1:p.Ser1272Ter
XM_017009188.1:c.3152C>A	XP_016864677.1:p.Ser1051Ter
XM_024454388.1:c.8078C>A	XP_024310156.1:p.Ser2693Ter
XM_024454389.1:c.7667C>A	XP_024310157.1:p.Ser2556Ter
XR_001742034.1:n.9059C>A
XR_001742035.1:n.9059C>A
XR_925598.1:n.9141C>A