Canonical Allele Identifier: CA3205136

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13922121T>C , CM000667.2:g.13922121T>C	GRCh38
NC_000005.9:g.13922230T>C , CM000667.1:g.13922230T>C	GRCh37
NC_000005.8:g.13975230T>C	NCBI36
NG_013081.1:g.27360A>G
NG_013081.2:g.27360A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.646A>G MANE Select	NP_001360.1:p.Ser216Gly
ENST00000265104.5:c.646A>G MANE Select	ENSP00000265104.4:p.Ser216Gly
NM_001369.2:c.646A>G	NP_001360.1:p.Ser216Gly
ENST00000265104.4:c.646A>G	ENSP00000265104.4:p.Ser216Gly
ENST00000508040.1:n.1005A>G
ENST00000680213.1:c.406A>G	ENSP00000506622.1:p.Ser136Gly
ENST00000680213.2:n.702A>G
ENST00000681290.1:c.601A>G	ENSP00000505288.1:p.Ser201Gly
ENST00000682376.1:n.690A>G
ENST00000682586.1:n.690A>G
ENST00000683011.1:n.585A>G
ENST00000683967.1:n.696A>G
ENST00000684013.1:n.696A>G
ENST00000684099.1:n.741A>G
XM_005248262.2:c.601A>G	XP_005248319.1:p.Ser201Gly
XM_005248262.3:c.754A>G	XP_005248319.2:p.Ser252Gly
XM_011513990.1:c.646A>G	XP_011512292.1:p.Ser216Gly
XM_017009177.1:c.754A>G	XP_016864666.1:p.Ser252Gly
XM_017009178.1:c.-391A>G	XP_016864667.1:n.-391A>G
XM_017009180.1:c.754A>G	XP_016864669.1:p.Ser252Gly
XM_017009181.1:c.754A>G	XP_016864670.1:p.Ser252Gly
XM_017009182.1:c.754A>G	XP_016864671.1:p.Ser252Gly
XM_017009183.1:c.754A>G	XP_016864672.1:p.Ser252Gly
XM_017009184.1:c.754A>G	XP_016864673.1:p.Ser252Gly
XM_017009187.1:c.754A>G	XP_016864676.1:p.Ser252Gly
XM_024454388.1:c.-2261A>G	XP_024310156.1:n.-2261A>G
XM_024454389.1:c.-1314A>G	XP_024310157.1:n.-1314A>G
XR_001742034.1:n.771A>G
XR_001742035.1:n.771A>G
XR_925598.1:n.853A>G