Canonical Allele Identifier: CA1528422973

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752279A= , CM000667.2:g.13752279A=	GRCh38
NC_000005.9:g.13752388A= , CM000667.1:g.13752388A=	GRCh37
NC_000005.8:g.13805388A=	NCBI36
NG_013081.1:g.197202T=
NG_013081.2:g.197202T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10883T= MANE Select	ENSP00000265104.4:p.Leu3628=
ENST00000681290.1:c.10838T=	ENSP00000505288.1:p.Leu3613=
ENST00000265104.4:c.10883T=	ENSP00000265104.4:p.Leu3628=
NM_001369.2:c.10883T=	NP_001360.1:p.Leu3628=
XM_005248262.2:c.10838T=	XP_005248319.1:p.Leu3613=
XM_005248262.3:c.10991T=	XP_005248319.2:p.Leu3664=
XM_017009177.1:c.10991T=	XP_016864666.1:p.Leu3664=
XM_017009178.1:c.9896T=	XP_016864667.1:p.Leu3299=
XM_017009179.2:c.9896T=	XP_016864668.1:p.Leu3299=
XM_017009180.1:c.10991T=	XP_016864669.1:p.Leu3664=
XM_017009181.1:c.10991T=	XP_016864670.1:p.Leu3664=
XM_017009182.1:c.10991T=	XP_016864671.1:p.Leu3664=
XM_017009185.1:c.6080T=	XP_016864674.1:p.Leu2027=
XM_017009186.1:c.5633T=	XP_016864675.1:p.Leu1878=
XM_017009188.1:c.4970T=	XP_016864677.1:p.Leu1657=
XM_024454388.1:c.9896T=	XP_024310156.1:p.Leu3299=
XM_024454389.1:c.9485T=	XP_024310157.1:p.Leu3162=
NM_001369.3:c.10883T= MANE Select	NP_001360.1:p.Leu3628=