Canonical Allele Identifier: CA359217490

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13917149A>C , CM000667.2:g.13917149A>C	GRCh38
NC_000005.9:g.13917258A>C , CM000667.1:g.13917258A>C	GRCh37
NC_000005.8:g.13970258A>C	NCBI36
NG_013081.1:g.32332T>G
NG_013081.2:g.32332T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1083T>G MANE Select	NP_001360.1:p.Ser361Arg
ENST00000265104.5:c.1083T>G MANE Select	ENSP00000265104.4:p.Ser361Arg
NM_001369.2:c.1083T>G	NP_001360.1:p.Ser361Arg
ENST00000265104.4:c.1083T>G	ENSP00000265104.4:p.Ser361Arg
ENST00000508040.1:n.1491T>G
ENST00000680213.1:c.843T>G	ENSP00000506622.1:p.Ser281Arg
ENST00000680213.2:n.1139T>G
ENST00000681290.1:c.1038T>G	ENSP00000505288.1:p.Ser346Arg
ENST00000682376.1:n.3046T>G
ENST00000682586.1:n.3095T>G
ENST00000683011.1:n.1022T>G
ENST00000683967.1:n.1182T>G
ENST00000684013.1:n.1182T>G
ENST00000684099.1:n.1178T>G
XM_005248262.2:c.1038T>G	XP_005248319.1:p.Ser346Arg
XM_005248262.3:c.1191T>G	XP_005248319.2:p.Ser397Arg
XM_011513990.1:c.1083T>G	XP_011512292.1:p.Ser361Arg
XM_017009177.1:c.1191T>G	XP_016864666.1:p.Ser397Arg
XM_017009178.1:c.96T>G	XP_016864667.1:p.Ser32Arg
XM_017009179.2:c.96T>G	XP_016864668.1:p.Ser32Arg
XM_017009180.1:c.1191T>G	XP_016864669.1:p.Ser397Arg
XM_017009181.1:c.1191T>G	XP_016864670.1:p.Ser397Arg
XM_017009182.1:c.1191T>G	XP_016864671.1:p.Ser397Arg
XM_017009183.1:c.1191T>G	XP_016864672.1:p.Ser397Arg
XM_017009184.1:c.1191T>G	XP_016864673.1:p.Ser397Arg
XM_017009187.1:c.1191T>G	XP_016864676.1:p.Ser397Arg
XM_024454388.1:c.96T>G	XP_024310156.1:p.Ser32Arg
XM_024454389.1:c.-877T>G	XP_024310157.1:n.-877T>G
XR_001742034.1:n.1208T>G
XR_001742035.1:n.1208T>G
XR_925598.1:n.1290T>G