Canonical Allele Identifier: CA3204980

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13917178C>A , CM000667.2:g.13917178C>A	GRCh38
NC_000005.9:g.13917287C>A , CM000667.1:g.13917287C>A	GRCh37
NC_000005.8:g.13970287C>A	NCBI36
NG_013081.1:g.32303G>T
NG_013081.2:g.32303G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1054G>T MANE Select	NP_001360.1:p.Glu352Ter
ENST00000265104.5:c.1054G>T MANE Select	ENSP00000265104.4:p.Glu352Ter
NM_001369.2:c.1054G>T	NP_001360.1:p.Glu352Ter
ENST00000265104.4:c.1054G>T	ENSP00000265104.4:p.Glu352Ter
ENST00000508040.1:n.1462G>T
ENST00000680213.1:c.814G>T	ENSP00000506622.1:p.Glu272Ter
ENST00000680213.2:n.1110G>T
ENST00000681290.1:c.1009G>T	ENSP00000505288.1:p.Glu337Ter
ENST00000682376.1:n.3017G>T
ENST00000682586.1:n.3066G>T
ENST00000683011.1:n.993G>T
ENST00000683967.1:n.1153G>T
ENST00000684013.1:n.1153G>T
ENST00000684099.1:n.1149G>T
XM_005248262.2:c.1009G>T	XP_005248319.1:p.Glu337Ter
XM_005248262.3:c.1162G>T	XP_005248319.2:p.Glu388Ter
XM_011513990.1:c.1054G>T	XP_011512292.1:p.Glu352Ter
XM_017009177.1:c.1162G>T	XP_016864666.1:p.Glu388Ter
XM_017009178.1:c.67G>T	XP_016864667.1:p.Glu23Ter
XM_017009179.2:c.67G>T	XP_016864668.1:p.Glu23Ter
XM_017009180.1:c.1162G>T	XP_016864669.1:p.Glu388Ter
XM_017009181.1:c.1162G>T	XP_016864670.1:p.Glu388Ter
XM_017009182.1:c.1162G>T	XP_016864671.1:p.Glu388Ter
XM_017009183.1:c.1162G>T	XP_016864672.1:p.Glu388Ter
XM_017009184.1:c.1162G>T	XP_016864673.1:p.Glu388Ter
XM_017009187.1:c.1162G>T	XP_016864676.1:p.Glu388Ter
XM_024454388.1:c.67G>T	XP_024310156.1:p.Glu23Ter
XM_024454389.1:c.-906G>T	XP_024310157.1:n.-906G>T
XR_001742034.1:n.1179G>T
XR_001742035.1:n.1179G>T
XR_925598.1:n.1261G>T