Canonical Allele Identifier: CA2581470630

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919146T>C , CM000667.2:g.13919146T>C	GRCh38
NC_000005.9:g.13919255T>C , CM000667.1:g.13919255T>C	GRCh37
NC_000005.8:g.13972255T>C	NCBI36
NG_013081.1:g.30335A>G
NG_013081.2:g.30335A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1031+30A>G
ENST00000682376.1:n.1049A>G
ENST00000682586.1:n.1098A>G
ENST00000683011.1:n.914+30A>G
ENST00000683967.1:n.1074+30A>G
ENST00000684013.1:n.1074+30A>G
ENST00000684099.1:n.1070+30A>G
ENST00000265104.5:c.975+30A>G MANE Select	ENSP00000265104.4:n.975+30A>G
ENST00000680213.1:c.735+30A>G	ENSP00000506622.1:n.735+30A>G
ENST00000681290.1:c.930+30A>G	ENSP00000505288.1:n.930+30A>G
ENST00000265104.4:c.975+30A>G	ENSP00000265104.4:n.975+30A>G
ENST00000508040.1:n.1383+30A>G
NM_001369.2:c.975+30A>G	NP_001360.1:n.975+30A>G
XM_005248262.2:c.930+30A>G	XP_005248319.1:n.930+30A>G
XM_011513990.1:c.975+30A>G	XP_011512292.1:n.975+30A>G
XR_925598.1:n.1182+30A>G
XM_005248262.3:c.1083+30A>G	XP_005248319.2:n.1083+30A>G
XM_017009177.1:c.1083+30A>G	XP_016864666.1:n.1083+30A>G
XM_017009178.1:c.-13+30A>G	XP_016864667.1:n.-13+30A>G
XM_017009180.1:c.1083+30A>G	XP_016864669.1:n.1083+30A>G
XM_017009181.1:c.1083+30A>G	XP_016864670.1:n.1083+30A>G
XM_017009182.1:c.1083+30A>G	XP_016864671.1:n.1083+30A>G
XM_017009183.1:c.1083+30A>G	XP_016864672.1:n.1083+30A>G
XM_017009184.1:c.1083+30A>G	XP_016864673.1:n.1083+30A>G
XM_017009187.1:c.1083+30A>G	XP_016864676.1:n.1083+30A>G
XM_024454388.1:c.-1902A>G	XP_024310156.1:n.-1902A>G
XM_024454389.1:c.-985+30A>G	XP_024310157.1:n.-985+30A>G
XR_001742034.1:n.1100+30A>G
XR_001742035.1:n.1100+30A>G
NM_001369.3:c.975+30A>G MANE Select	NP_001360.1:n.975+30A>G