Canonical Allele Identifier: CA1528465020

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844852G= , CM000667.2:g.13844852G=	GRCh38
NC_000005.9:g.13844961G= , CM000667.1:g.13844961G=	GRCh37
NC_000005.8:g.13897961G=	NCBI36
NG_013081.1:g.104629C=
NG_013081.2:g.104629C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5256C= MANE Select	ENSP00000265104.4:p.Val1752=
ENST00000681290.1:c.5211C=	ENSP00000505288.1:p.Val1737=
ENST00000265104.4:c.5256C=	ENSP00000265104.4:p.Val1752=
NM_001369.2:c.5256C=	NP_001360.1:p.Val1752=
XM_005248262.2:c.5211C=	XP_005248319.1:p.Val1737=
XM_011513990.1:c.5256C=	XP_011512292.1:p.Val1752=
XR_925598.1:n.5463C=
XM_005248262.3:c.5364C=	XP_005248319.2:p.Val1788=
XM_017009177.1:c.5364C=	XP_016864666.1:p.Val1788=
XM_017009178.1:c.4269C=	XP_016864667.1:p.Val1423=
XM_017009179.2:c.4269C=	XP_016864668.1:p.Val1423=
XM_017009180.1:c.5364C=	XP_016864669.1:p.Val1788=
XM_017009181.1:c.5364C=	XP_016864670.1:p.Val1788=
XM_017009182.1:c.5364C=	XP_016864671.1:p.Val1788=
XM_017009183.1:c.5364C=	XP_016864672.1:p.Val1788=
XM_017009184.1:c.5364C=	XP_016864673.1:p.Val1788=
XM_017009185.1:c.453C=	XP_016864674.1:p.Val151=
XM_017009186.1:c.22-2948C=	XP_016864675.1:n.22-2948C=
XM_017009187.1:c.5364C=	XP_016864676.1:p.Val1788=
XM_024454388.1:c.4269C=	XP_024310156.1:p.Val1423=
XM_024454389.1:c.3858C=	XP_024310157.1:p.Val1286=
XR_001742034.1:n.5381C=
XR_001742035.1:n.5381C=
NM_001369.3:c.5256C= MANE Select	NP_001360.1:p.Val1752=