Canonical Allele Identifier: CA1528431219

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770874A= , CM000667.2:g.13770874A=	GRCh38
NC_000005.9:g.13770983A= , CM000667.1:g.13770983A=	GRCh37
NC_000005.8:g.13823983A=	NCBI36
NG_013081.1:g.178607T=
NG_013081.2:g.178607T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9480T= MANE Select	ENSP00000265104.4:p.Cys3160=
ENST00000681290.1:c.9435T=	ENSP00000505288.1:p.Cys3145=
ENST00000265104.4:c.9480T=	ENSP00000265104.4:p.Cys3160=
ENST00000504001.3:n.192T=
NM_001369.2:c.9480T=	NP_001360.1:p.Cys3160=
XM_005248262.2:c.9435T=	XP_005248319.1:p.Cys3145=
XM_005248262.3:c.9588T=	XP_005248319.2:p.Cys3196=
XM_017009177.1:c.9588T=	XP_016864666.1:p.Cys3196=
XM_017009178.1:c.8493T=	XP_016864667.1:p.Cys2831=
XM_017009179.2:c.8493T=	XP_016864668.1:p.Cys2831=
XM_017009180.1:c.9588T=	XP_016864669.1:p.Cys3196=
XM_017009181.1:c.9588T=	XP_016864670.1:p.Cys3196=
XM_017009182.1:c.9588T=	XP_016864671.1:p.Cys3196=
XM_017009183.1:c.9588T=	XP_016864672.1:p.Cys3196=
XM_017009185.1:c.4677T=	XP_016864674.1:p.Cys1559=
XM_017009186.1:c.4230T=	XP_016864675.1:p.Cys1410=
XM_017009188.1:c.3567T=	XP_016864677.1:p.Cys1189=
XM_024454388.1:c.8493T=	XP_024310156.1:p.Cys2831=
XM_024454389.1:c.8082T=	XP_024310157.1:p.Cys2694=
NM_001369.3:c.9480T= MANE Select	NP_001360.1:p.Cys3160=