Canonical Allele Identifier: CA3205105

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13920513A>G , CM000667.2:g.13920513A>G	GRCh38
NC_000005.9:g.13920622A>G , CM000667.1:g.13920622A>G	GRCh37
NC_000005.8:g.13973622A>G	NCBI36
NG_013081.1:g.28968T>C
NG_013081.2:g.28968T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.765T>C MANE Select	NP_001360.1:p.Asp255=
ENST00000265104.5:c.765T>C MANE Select	ENSP00000265104.4:p.Asp255=
NM_001369.2:c.765T>C	NP_001360.1:p.Asp255=
ENST00000265104.4:c.765T>C	ENSP00000265104.4:p.Asp255=
ENST00000508040.1:n.1124T>C
ENST00000680213.1:c.525T>C	ENSP00000506622.1:p.Asp175=
ENST00000680213.2:n.821T>C
ENST00000681290.1:c.720T>C	ENSP00000505288.1:p.Asp240=
ENST00000682376.1:n.809T>C
ENST00000682586.1:n.809T>C
ENST00000683011.1:n.704T>C
ENST00000683967.1:n.815T>C
ENST00000684013.1:n.815T>C
ENST00000684099.1:n.860T>C
XM_005248262.2:c.720T>C	XP_005248319.1:p.Asp240=
XM_005248262.3:c.873T>C	XP_005248319.2:p.Asp291=
XM_011513990.1:c.765T>C	XP_011512292.1:p.Asp255=
XM_017009177.1:c.873T>C	XP_016864666.1:p.Asp291=
XM_017009178.1:c.-272T>C	XP_016864667.1:n.-272T>C
XM_017009180.1:c.873T>C	XP_016864669.1:p.Asp291=
XM_017009181.1:c.873T>C	XP_016864670.1:p.Asp291=
XM_017009182.1:c.873T>C	XP_016864671.1:p.Asp291=
XM_017009183.1:c.873T>C	XP_016864672.1:p.Asp291=
XM_017009184.1:c.873T>C	XP_016864673.1:p.Asp291=
XM_017009187.1:c.873T>C	XP_016864676.1:p.Asp291=
XM_024454388.1:c.-2142T>C	XP_024310156.1:n.-2142T>C
XM_024454389.1:c.-1195T>C	XP_024310157.1:n.-1195T>C
XR_001742034.1:n.890T>C
XR_001742035.1:n.890T>C
XR_925598.1:n.972T>C