Canonical Allele Identifier: CA2742038360

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.[13841763G>A;13890971A>C] , CM000667.2:g.[13841763G>A;13890971A>C]	GRCh38
NC_000005.9:g.[13841872G>A;13891080A>C] , CM000667.1:g.[13841872G>A;13891080A>C]	GRCh37
NC_000005.8:g.[13894872G>A;13944080A>C]	NCBI36
NG_013081.1:g.[58510T>G;107718C>T]
NG_013081.2:g.[58510T>G;107718C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.[2577+5T>G;5413C>T] MANE Select	ENSP00000265104.4:p.Arg1805Cys
ENST00000681290.1:c.[2532+5T>G;5368C>T]	ENSP00000505288.1:p.Arg1790Cys
ENST00000265104.4:c.[2577+5T>G;5413C>T]	ENSP00000265104.4:p.Arg1805Cys
NM_001369.2:c.[2577+5T>G;5413C>T]	NP_001360.1:p.Arg1805Cys
XM_005248262.2:c.[2532+5T>G;5368C>T]	XP_005248319.1:p.Arg1790Cys
XM_011513990.1:c.[2577+5T>G;5413C>T]	XP_011512292.1:p.Arg1805Cys
XR_925598.1:n.[2784+5T>G;5620C>T]
XM_005248262.3:c.[2685+5T>G;5521C>T]	XP_005248319.2:p.Arg1841Cys
XM_017009177.1:c.[2685+5T>G;5521C>T]	XP_016864666.1:p.Arg1841Cys
XM_017009178.1:c.[1590+5T>G;4426C>T]	XP_016864667.1:p.Arg1476Cys
XM_017009179.2:c.[1590+5T>G;4426C>T]	XP_016864668.1:p.Arg1476Cys
XM_017009180.1:c.[2685+5T>G;5521C>T]	XP_016864669.1:p.Arg1841Cys
XM_017009181.1:c.[2685+5T>G;5521C>T]	XP_016864670.1:p.Arg1841Cys
XM_017009182.1:c.[2685+5T>G;5521C>T]	XP_016864671.1:p.Arg1841Cys
XM_017009183.1:c.[2685+5T>G;5521C>T]	XP_016864672.1:p.Arg1841Cys
XM_017009184.1:c.[2685+5T>G;5521C>T]	XP_016864673.1:p.Arg1841Cys
XM_017009187.1:c.[2685+5T>G;5521C>T]	XP_016864676.1:p.Arg1841Cys
XM_024454388.1:c.[1590+5T>G;4426C>T]	XP_024310156.1:p.Arg1476Cys
XM_024454389.1:c.[1179+5T>G;4015C>T]	XP_024310157.1:p.Arg1339Cys
XR_001742034.1:n.[2702+5T>G;5538C>T]
XR_001742035.1:n.[2702+5T>G;5538C>T]
NM_001369.3:c.[2577+5T>G;5413C>T] MANE Select	NP_001360.1:p.Arg1805Cys