Canonical Allele Identifier: CA3204900

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13914584G>T , CM000667.2:g.13914584G>T	GRCh38
NC_000005.9:g.13914693G>T , CM000667.1:g.13914693G>T	GRCh37
NC_000005.8:g.13967693G>T	NCBI36
NG_013081.1:g.34897C>A
NG_013081.2:g.34897C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1256C>A MANE Select	NP_001360.1:p.Ser419Tyr
ENST00000265104.5:c.1256C>A MANE Select	ENSP00000265104.4:p.Ser419Tyr
NM_001369.2:c.1256C>A	NP_001360.1:p.Ser419Tyr
ENST00000265104.4:c.1256C>A	ENSP00000265104.4:p.Ser419Tyr
ENST00000508040.1:n.1664C>A
ENST00000680213.1:c.1016C>A	ENSP00000506622.1:p.Ser339Tyr
ENST00000680213.2:n.1312C>A
ENST00000681290.1:c.1211C>A	ENSP00000505288.1:p.Ser404Tyr
ENST00000682376.1:n.4924C>A
ENST00000683011.1:n.1195C>A
ENST00000683967.1:n.3060C>A
ENST00000684013.1:n.1355C>A
ENST00000684099.1:n.1351C>A
XM_005248262.2:c.1211C>A	XP_005248319.1:p.Ser404Tyr
XM_005248262.3:c.1364C>A	XP_005248319.2:p.Ser455Tyr
XM_011513990.1:c.1256C>A	XP_011512292.1:p.Ser419Tyr
XM_017009177.1:c.1364C>A	XP_016864666.1:p.Ser455Tyr
XM_017009178.1:c.269C>A	XP_016864667.1:p.Ser90Tyr
XM_017009179.2:c.269C>A	XP_016864668.1:p.Ser90Tyr
XM_017009180.1:c.1364C>A	XP_016864669.1:p.Ser455Tyr
XM_017009181.1:c.1364C>A	XP_016864670.1:p.Ser455Tyr
XM_017009182.1:c.1364C>A	XP_016864671.1:p.Ser455Tyr
XM_017009183.1:c.1364C>A	XP_016864672.1:p.Ser455Tyr
XM_017009184.1:c.1364C>A	XP_016864673.1:p.Ser455Tyr
XM_017009187.1:c.1364C>A	XP_016864676.1:p.Ser455Tyr
XM_024454388.1:c.269C>A	XP_024310156.1:p.Ser90Tyr
XM_024454389.1:c.-704C>A	XP_024310157.1:n.-704C>A
XR_001742034.1:n.1381C>A
XR_001742035.1:n.1381C>A
XR_925598.1:n.1463C>A