Canonical Allele Identifier: CA359222007

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13922112C>A , CM000667.2:g.13922112C>A	GRCh38
NC_000005.9:g.13922221C>A , CM000667.1:g.13922221C>A	GRCh37
NC_000005.8:g.13975221C>A	NCBI36
NG_013081.1:g.27369G>T
NG_013081.2:g.27369G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.655G>T MANE Select	NP_001360.1:p.Glu219Ter
ENST00000265104.5:c.655G>T MANE Select	ENSP00000265104.4:p.Glu219Ter
NM_001369.2:c.655G>T	NP_001360.1:p.Glu219Ter
ENST00000265104.4:c.655G>T	ENSP00000265104.4:p.Glu219Ter
ENST00000508040.1:n.1014G>T
ENST00000680213.1:c.415G>T	ENSP00000506622.1:p.Glu139Ter
ENST00000680213.2:n.711G>T
ENST00000681290.1:c.610G>T	ENSP00000505288.1:p.Glu204Ter
ENST00000682376.1:n.699G>T
ENST00000682586.1:n.699G>T
ENST00000683011.1:n.594G>T
ENST00000683967.1:n.705G>T
ENST00000684013.1:n.705G>T
ENST00000684099.1:n.750G>T
XM_005248262.2:c.610G>T	XP_005248319.1:p.Glu204Ter
XM_005248262.3:c.763G>T	XP_005248319.2:p.Glu255Ter
XM_011513990.1:c.655G>T	XP_011512292.1:p.Glu219Ter
XM_017009177.1:c.763G>T	XP_016864666.1:p.Glu255Ter
XM_017009178.1:c.-382G>T	XP_016864667.1:n.-382G>T
XM_017009180.1:c.763G>T	XP_016864669.1:p.Glu255Ter
XM_017009181.1:c.763G>T	XP_016864670.1:p.Glu255Ter
XM_017009182.1:c.763G>T	XP_016864671.1:p.Glu255Ter
XM_017009183.1:c.763G>T	XP_016864672.1:p.Glu255Ter
XM_017009184.1:c.763G>T	XP_016864673.1:p.Glu255Ter
XM_017009187.1:c.763G>T	XP_016864676.1:p.Glu255Ter
XM_024454388.1:c.-2252G>T	XP_024310156.1:n.-2252G>T
XM_024454389.1:c.-1305G>T	XP_024310157.1:n.-1305G>T
XR_001742034.1:n.780G>T
XR_001742035.1:n.780G>T
XR_925598.1:n.862G>T