Canonical Allele Identifier: CA1528458429

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841853A= , CM000667.2:g.13841853A=	GRCh38
NC_000005.9:g.13841962A= , CM000667.1:g.13841962A=	GRCh37
NC_000005.8:g.13894962A=	NCBI36
NG_013081.1:g.107628T=
NG_013081.2:g.107628T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5323T= MANE Select	ENSP00000265104.4:p.Leu1775=
ENST00000681290.1:c.5278T=	ENSP00000505288.1:p.Leu1760=
ENST00000265104.4:c.5323T=	ENSP00000265104.4:p.Leu1775=
NM_001369.2:c.5323T=	NP_001360.1:p.Leu1775=
XM_005248262.2:c.5278T=	XP_005248319.1:p.Leu1760=
XM_011513990.1:c.5323T=	XP_011512292.1:p.Leu1775=
XR_925598.1:n.5530T=
XM_005248262.3:c.5431T=	XP_005248319.2:p.Leu1811=
XM_017009177.1:c.5431T=	XP_016864666.1:p.Leu1811=
XM_017009178.1:c.4336T=	XP_016864667.1:p.Leu1446=
XM_017009179.2:c.4336T=	XP_016864668.1:p.Leu1446=
XM_017009180.1:c.5431T=	XP_016864669.1:p.Leu1811=
XM_017009181.1:c.5431T=	XP_016864670.1:p.Leu1811=
XM_017009182.1:c.5431T=	XP_016864671.1:p.Leu1811=
XM_017009183.1:c.5431T=	XP_016864672.1:p.Leu1811=
XM_017009184.1:c.5431T=	XP_016864673.1:p.Leu1811=
XM_017009185.1:c.520T=	XP_016864674.1:p.Leu174=
XM_017009186.1:c.73T=	XP_016864675.1:p.Leu25=
XM_017009187.1:c.5431T=	XP_016864676.1:p.Leu1811=
XM_024454388.1:c.4336T=	XP_024310156.1:p.Leu1446=
XM_024454389.1:c.3925T=	XP_024310157.1:p.Leu1309=
XR_001742034.1:n.5448T=
XR_001742035.1:n.5448T=
NM_001369.3:c.5323T= MANE Select	NP_001360.1:p.Leu1775=