Canonical Allele Identifier: CA3205030

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919201G>A , CM000667.2:g.13919201G>A	GRCh38
NC_000005.9:g.13919310G>A , CM000667.1:g.13919310G>A	GRCh37
NC_000005.8:g.13972310G>A	NCBI36
NG_013081.1:g.30280C>T
NG_013081.2:g.30280C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.950C>T MANE Select	NP_001360.1:p.Ala317Val
ENST00000265104.5:c.950C>T MANE Select	ENSP00000265104.4:p.Ala317Val
NM_001369.2:c.950C>T	NP_001360.1:p.Ala317Val
ENST00000265104.4:c.950C>T	ENSP00000265104.4:p.Ala317Val
ENST00000508040.1:n.1358C>T
ENST00000680213.1:c.710C>T	ENSP00000506622.1:p.Ala237Val
ENST00000680213.2:n.1006C>T
ENST00000681290.1:c.905C>T	ENSP00000505288.1:p.Ala302Val
ENST00000682376.1:n.994C>T
ENST00000682586.1:n.1043C>T
ENST00000683011.1:n.889C>T
ENST00000683967.1:n.1049C>T
ENST00000684013.1:n.1049C>T
ENST00000684099.1:n.1045C>T
XM_005248262.2:c.905C>T	XP_005248319.1:p.Ala302Val
XM_005248262.3:c.1058C>T	XP_005248319.2:p.Ala353Val
XM_011513990.1:c.950C>T	XP_011512292.1:p.Ala317Val
XM_017009177.1:c.1058C>T	XP_016864666.1:p.Ala353Val
XM_017009178.1:c.-38C>T	XP_016864667.1:n.-38C>T
XM_017009180.1:c.1058C>T	XP_016864669.1:p.Ala353Val
XM_017009181.1:c.1058C>T	XP_016864670.1:p.Ala353Val
XM_017009182.1:c.1058C>T	XP_016864671.1:p.Ala353Val
XM_017009183.1:c.1058C>T	XP_016864672.1:p.Ala353Val
XM_017009184.1:c.1058C>T	XP_016864673.1:p.Ala353Val
XM_017009187.1:c.1058C>T	XP_016864676.1:p.Ala353Val
XM_024454388.1:c.-1957C>T	XP_024310156.1:n.-1957C>T
XM_024454389.1:c.-1010C>T	XP_024310157.1:n.-1010C>T
XR_001742034.1:n.1075C>T
XR_001742035.1:n.1075C>T
XR_925598.1:n.1157C>T