Canonical Allele Identifier: CA2277047813

Gene: DNAH17

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567035G= , CM000679.2:g.78567035G=	GRCh38
NC_000017.10:g.76563117G= , CM000679.1:g.76563117G=	GRCh37
NC_000017.9:g.74074712G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1416C= MANE Select	ENSP00000374490.6:p.Ala472=
ENST00000389840.6:c.1416C=	ENSP00000374490.6:p.Ala472=
ENST00000585328.5:c.1416C=	ENSP00000465516.1:p.Ala472=
ENST00000589793.1:n.628C=
NM_173628.3:c.1416C=	NP_775899.3:p.Ala472=
XM_011525416.1:c.1416C=	XP_011523718.1:p.Ala472=
XM_011525417.1:c.1416C=	XP_011523719.1:p.Ala472=
XR_934583.1:n.1577C=
XM_011525416.2:c.1416C=	XP_011523718.1:p.Ala472=
XM_024451013.1:c.1416C=	XP_024306781.1:p.Ala472=
XM_024451014.1:c.1416C=	XP_024306782.1:p.Ala472=
XR_002958080.1:n.1579C=
XR_002958081.1:n.1583C=
NM_173628.4:c.1416C= MANE Select	NP_775899.3:p.Ala472=