Canonical Allele Identifier: CA3204995

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13917249C>T , CM000667.2:g.13917249C>T	GRCh38
NC_000005.9:g.13917358C>T , CM000667.1:g.13917358C>T	GRCh37
NC_000005.8:g.13970358C>T	NCBI36
NG_013081.1:g.32232G>A
NG_013081.2:g.32232G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.983G>A MANE Select	NP_001360.1:p.Arg328Gln
ENST00000265104.5:c.983G>A MANE Select	ENSP00000265104.4:p.Arg328Gln
NM_001369.2:c.983G>A	NP_001360.1:p.Arg328Gln
ENST00000265104.4:c.983G>A	ENSP00000265104.4:p.Arg328Gln
ENST00000508040.1:n.1391G>A
ENST00000680213.1:c.743G>A	ENSP00000506622.1:p.Arg248Gln
ENST00000680213.2:n.1039G>A
ENST00000681290.1:c.938G>A	ENSP00000505288.1:p.Arg313Gln
ENST00000682376.1:n.2946G>A
ENST00000682586.1:n.2995G>A
ENST00000683011.1:n.922G>A
ENST00000683967.1:n.1082G>A
ENST00000684013.1:n.1082G>A
ENST00000684099.1:n.1078G>A
XM_005248262.2:c.938G>A	XP_005248319.1:p.Arg313Gln
XM_005248262.3:c.1091G>A	XP_005248319.2:p.Arg364Gln
XM_011513990.1:c.983G>A	XP_011512292.1:p.Arg328Gln
XM_017009177.1:c.1091G>A	XP_016864666.1:p.Arg364Gln
XM_017009178.1:c.-5G>A	XP_016864667.1:n.-5G>A
XM_017009179.2:c.-5G>A	XP_016864668.1:n.-5G>A
XM_017009180.1:c.1091G>A	XP_016864669.1:p.Arg364Gln
XM_017009181.1:c.1091G>A	XP_016864670.1:p.Arg364Gln
XM_017009182.1:c.1091G>A	XP_016864671.1:p.Arg364Gln
XM_017009183.1:c.1091G>A	XP_016864672.1:p.Arg364Gln
XM_017009184.1:c.1091G>A	XP_016864673.1:p.Arg364Gln
XM_017009187.1:c.1091G>A	XP_016864676.1:p.Arg364Gln
XM_024454388.1:c.-5G>A	XP_024310156.1:n.-5G>A
XM_024454389.1:c.-977G>A	XP_024310157.1:n.-977G>A
XR_001742034.1:n.1108G>A
XR_001742035.1:n.1108G>A
XR_925598.1:n.1190G>A