Canonical Allele Identifier: CA443276070

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13920501T>C , CM000667.2:g.13920501T>C	GRCh38
NC_000005.9:g.13920610T>C , CM000667.1:g.13920610T>C	GRCh37
NC_000005.8:g.13973610T>C	NCBI36
NG_013081.1:g.28980A>G
NG_013081.2:g.28980A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.777A>G MANE Select	NP_001360.1:p.Val259=
ENST00000265104.5:c.777A>G MANE Select	ENSP00000265104.4:p.Val259=
NM_001369.2:c.777A>G	NP_001360.1:p.Val259=
ENST00000265104.4:c.777A>G	ENSP00000265104.4:p.Val259=
ENST00000508040.1:n.1136A>G
ENST00000680213.1:c.537A>G	ENSP00000506622.1:p.Val179=
ENST00000680213.2:n.833A>G
ENST00000681290.1:c.732A>G	ENSP00000505288.1:p.Val244=
ENST00000682376.1:n.821A>G
ENST00000682586.1:n.821A>G
ENST00000683011.1:n.716A>G
ENST00000683967.1:n.827A>G
ENST00000684013.1:n.827A>G
ENST00000684099.1:n.872A>G
XM_005248262.2:c.732A>G	XP_005248319.1:p.Val244=
XM_005248262.3:c.885A>G	XP_005248319.2:p.Val295=
XM_011513990.1:c.777A>G	XP_011512292.1:p.Val259=
XM_017009177.1:c.885A>G	XP_016864666.1:p.Val295=
XM_017009178.1:c.-260A>G	XP_016864667.1:n.-260A>G
XM_017009180.1:c.885A>G	XP_016864669.1:p.Val295=
XM_017009181.1:c.885A>G	XP_016864670.1:p.Val295=
XM_017009182.1:c.885A>G	XP_016864671.1:p.Val295=
XM_017009183.1:c.885A>G	XP_016864672.1:p.Val295=
XM_017009184.1:c.885A>G	XP_016864673.1:p.Val295=
XM_017009187.1:c.885A>G	XP_016864676.1:p.Val295=
XM_024454388.1:c.-2130A>G	XP_024310156.1:n.-2130A>G
XM_024454389.1:c.-1183A>G	XP_024310157.1:n.-1183A>G
XR_001742034.1:n.902A>G
XR_001742035.1:n.902A>G
XR_925598.1:n.984A>G