Canonical Allele Identifier: CA3201933

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735860G>A , CM000667.2:g.13735860G>A	GRCh38
NC_000005.9:g.13735969G>A , CM000667.1:g.13735969G>A	GRCh37
NC_000005.8:g.13788969G>A	NCBI36
NG_013081.1:g.213621C>T
NG_013081.2:g.213621C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11528C>T MANE Select	NP_001360.1:p.Ser3843Leu
ENST00000265104.5:c.11528C>T MANE Select	ENSP00000265104.4:p.Ser3843Leu
NM_001369.2:c.11528C>T	NP_001360.1:p.Ser3843Leu
ENST00000265104.4:c.11528C>T	ENSP00000265104.4:p.Ser3843Leu
ENST00000681290.1:c.11483C>T	ENSP00000505288.1:p.Ser3828Leu
XM_005248262.2:c.11483C>T	XP_005248319.1:p.Ser3828Leu
XM_005248262.3:c.11636C>T	XP_005248319.2:p.Ser3879Leu
XM_017009177.1:c.11636C>T	XP_016864666.1:p.Ser3879Leu
XM_017009178.1:c.10541C>T	XP_016864667.1:p.Ser3514Leu
XM_017009179.2:c.10541C>T	XP_016864668.1:p.Ser3514Leu
XM_017009180.1:c.11636C>T	XP_016864669.1:p.Ser3879Leu
XM_017009181.1:c.11636C>T	XP_016864670.1:p.Ser3879Leu
XM_017009182.1:c.11392C>T	XP_016864671.1:p.Arg3798Cys
XM_017009185.1:c.6725C>T	XP_016864674.1:p.Ser2242Leu
XM_017009186.1:c.6278C>T	XP_016864675.1:p.Ser2093Leu
XM_017009188.1:c.5615C>T	XP_016864677.1:p.Ser1872Leu
XM_024454388.1:c.10541C>T	XP_024310156.1:p.Ser3514Leu
XM_024454389.1:c.10130C>T	XP_024310157.1:p.Ser3377Leu