Canonical Allele Identifier: CA1528497158

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13916435A= , CM000667.2:g.13916435A=	GRCh38
NC_000005.9:g.13916544A= , CM000667.1:g.13916544A=	GRCh37
NC_000005.8:g.13969544A=	NCBI36
NG_013081.1:g.33046T=
NG_013081.2:g.33046T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1166T=
ENST00000682376.1:n.3073T=
ENST00000683011.1:n.1049T=
ENST00000683967.1:n.1209T=
ENST00000684013.1:n.1209T=
ENST00000684099.1:n.1205T=
ENST00000265104.5:c.1110T= MANE Select	ENSP00000265104.4:p.Ile370=
ENST00000680213.1:c.870T=	ENSP00000506622.1:p.Ile290=
ENST00000681290.1:c.1065T=	ENSP00000505288.1:p.Ile355=
ENST00000265104.4:c.1110T=	ENSP00000265104.4:p.Ile370=
ENST00000508040.1:n.1518T=
NM_001369.2:c.1110T=	NP_001360.1:p.Ile370=
XM_005248262.2:c.1065T=	XP_005248319.1:p.Ile355=
XM_011513990.1:c.1110T=	XP_011512292.1:p.Ile370=
XR_925598.1:n.1317T=
XM_005248262.3:c.1218T=	XP_005248319.2:p.Ile406=
XM_017009177.1:c.1218T=	XP_016864666.1:p.Ile406=
XM_017009178.1:c.123T=	XP_016864667.1:p.Ile41=
XM_017009179.2:c.123T=	XP_016864668.1:p.Ile41=
XM_017009180.1:c.1218T=	XP_016864669.1:p.Ile406=
XM_017009181.1:c.1218T=	XP_016864670.1:p.Ile406=
XM_017009182.1:c.1218T=	XP_016864671.1:p.Ile406=
XM_017009183.1:c.1218T=	XP_016864672.1:p.Ile406=
XM_017009184.1:c.1218T=	XP_016864673.1:p.Ile406=
XM_017009187.1:c.1218T=	XP_016864676.1:p.Ile406=
XM_024454388.1:c.123T=	XP_024310156.1:p.Ile41=
XM_024454389.1:c.-850T=	XP_024310157.1:n.-850T=
XR_001742034.1:n.1235T=
XR_001742035.1:n.1235T=
NM_001369.3:c.1110T= MANE Select	NP_001360.1:p.Ile370=