Canonical Allele Identifier: CA1528399883

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701289G= , CM000667.2:g.13701289G=	GRCh38
NC_000005.9:g.13701398G= , CM000667.1:g.13701398G=	GRCh37
NC_000005.8:g.13754398G=	NCBI36
NG_013081.1:g.248192C=
NG_013081.2:g.248192C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13486C= MANE Select	NP_001360.1:p.Arg4496=
ENST00000265104.5:c.13486C= MANE Select	ENSP00000265104.4:p.Arg4496=
NM_001369.2:c.13486C=	NP_001360.1:p.Arg4496=
ENST00000265104.4:c.13486C=	ENSP00000265104.4:p.Arg4496=
ENST00000681290.1:c.13441C=	ENSP00000505288.1:p.Arg4481=
ENST00000683611.1:n.819C=
XM_005248262.2:c.13441C=	XP_005248319.1:p.Arg4481=
XM_005248262.3:c.13594C=	XP_005248319.2:p.Arg4532=
XM_017009177.1:c.13174C=	XP_016864666.1:p.Arg4392=
XM_017009178.1:c.12499C=	XP_016864667.1:p.Arg4167=
XM_017009179.2:c.12499C=	XP_016864668.1:p.Arg4167=
XM_017009185.1:c.8683C=	XP_016864674.1:p.Arg2895=
XM_017009186.1:c.8236C=	XP_016864675.1:p.Arg2746=
XM_017009188.1:c.7573C=	XP_016864677.1:p.Arg2525=
XM_024454388.1:c.12499C=	XP_024310156.1:p.Arg4167=
XM_024454389.1:c.12088C=	XP_024310157.1:p.Arg4030=