Canonical Allele Identifier: CA3205119

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13920608G>A , CM000667.2:g.13920608G>A	GRCh38
NC_000005.9:g.13920717G>A , CM000667.1:g.13920717G>A	GRCh37
NC_000005.8:g.13973717G>A	NCBI36
NG_013081.1:g.28873C>T
NG_013081.2:g.28873C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.670C>T MANE Select	NP_001360.1:p.Arg224Ter
ENST00000265104.5:c.670C>T MANE Select	ENSP00000265104.4:p.Arg224Ter
NM_001369.2:c.670C>T	NP_001360.1:p.Arg224Ter
ENST00000265104.4:c.670C>T	ENSP00000265104.4:p.Arg224Ter
ENST00000508040.1:n.1029C>T
ENST00000680213.1:c.430C>T	ENSP00000506622.1:p.Arg144Ter
ENST00000680213.2:n.726C>T
ENST00000681290.1:c.625C>T	ENSP00000505288.1:p.Arg209Ter
ENST00000682376.1:n.714C>T
ENST00000682586.1:n.714C>T
ENST00000683011.1:n.609C>T
ENST00000683967.1:n.720C>T
ENST00000684013.1:n.720C>T
ENST00000684099.1:n.765C>T
XM_005248262.2:c.625C>T	XP_005248319.1:p.Arg209Ter
XM_005248262.3:c.778C>T	XP_005248319.2:p.Arg260Ter
XM_011513990.1:c.670C>T	XP_011512292.1:p.Arg224Ter
XM_017009177.1:c.778C>T	XP_016864666.1:p.Arg260Ter
XM_017009178.1:c.-367C>T	XP_016864667.1:n.-367C>T
XM_017009180.1:c.778C>T	XP_016864669.1:p.Arg260Ter
XM_017009181.1:c.778C>T	XP_016864670.1:p.Arg260Ter
XM_017009182.1:c.778C>T	XP_016864671.1:p.Arg260Ter
XM_017009183.1:c.778C>T	XP_016864672.1:p.Arg260Ter
XM_017009184.1:c.778C>T	XP_016864673.1:p.Arg260Ter
XM_017009187.1:c.778C>T	XP_016864676.1:p.Arg260Ter
XM_024454388.1:c.-2237C>T	XP_024310156.1:n.-2237C>T
XM_024454389.1:c.-1290C>T	XP_024310157.1:n.-1290C>T
XR_001742034.1:n.795C>T
XR_001742035.1:n.795C>T
XR_925598.1:n.877C>T