Canonical Allele Identifier: CA3202363

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13766102G>A , CM000667.2:g.13766102G>A	GRCh38
NC_000005.9:g.13766211G>A , CM000667.1:g.13766211G>A	GRCh37
NC_000005.8:g.13819211G>A	NCBI36
NG_013081.1:g.183379C>T
NG_013081.2:g.183379C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9975C>T MANE Select	NP_001360.1:p.Cys3325=
ENST00000265104.5:c.9975C>T MANE Select	ENSP00000265104.4:p.Cys3325=
NM_001369.2:c.9975C>T	NP_001360.1:p.Cys3325=
ENST00000265104.4:c.9975C>T	ENSP00000265104.4:p.Cys3325=
ENST00000504001.3:n.609+2858C>T
ENST00000681290.1:c.9930C>T	ENSP00000505288.1:p.Cys3310=
XM_005248262.2:c.9930C>T	XP_005248319.1:p.Cys3310=
XM_005248262.3:c.10083C>T	XP_005248319.2:p.Cys3361=
XM_017009177.1:c.10083C>T	XP_016864666.1:p.Cys3361=
XM_017009178.1:c.8988C>T	XP_016864667.1:p.Cys2996=
XM_017009179.2:c.8988C>T	XP_016864668.1:p.Cys2996=
XM_017009180.1:c.10083C>T	XP_016864669.1:p.Cys3361=
XM_017009181.1:c.10083C>T	XP_016864670.1:p.Cys3361=
XM_017009182.1:c.10083C>T	XP_016864671.1:p.Cys3361=
XM_017009185.1:c.5172C>T	XP_016864674.1:p.Cys1724=
XM_017009186.1:c.4725C>T	XP_016864675.1:p.Cys1575=
XM_017009188.1:c.4062C>T	XP_016864677.1:p.Cys1354=
XM_024454388.1:c.8988C>T	XP_024310156.1:p.Cys2996=
XM_024454389.1:c.8577C>T	XP_024310157.1:p.Cys2859=