Canonical Allele Identifier: CA3202469

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769536T>C , CM000667.2:g.13769536T>C	GRCh38
NC_000005.9:g.13769645T>C , CM000667.1:g.13769645T>C	GRCh37
NC_000005.8:g.13822645T>C	NCBI36
NG_013081.1:g.179945A>G
NG_013081.2:g.179945A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9685A>G MANE Select	NP_001360.1:p.Lys3229Glu
ENST00000265104.5:c.9685A>G MANE Select	ENSP00000265104.4:p.Lys3229Glu
NM_001369.2:c.9685A>G	NP_001360.1:p.Lys3229Glu
ENST00000265104.4:c.9685A>G	ENSP00000265104.4:p.Lys3229Glu
ENST00000504001.3:n.397A>G
ENST00000681290.1:c.9640A>G	ENSP00000505288.1:p.Lys3214Glu
XM_005248262.2:c.9640A>G	XP_005248319.1:p.Lys3214Glu
XM_005248262.3:c.9793A>G	XP_005248319.2:p.Lys3265Glu
XM_017009177.1:c.9793A>G	XP_016864666.1:p.Lys3265Glu
XM_017009178.1:c.8698A>G	XP_016864667.1:p.Lys2900Glu
XM_017009179.2:c.8698A>G	XP_016864668.1:p.Lys2900Glu
XM_017009180.1:c.9793A>G	XP_016864669.1:p.Lys3265Glu
XM_017009181.1:c.9793A>G	XP_016864670.1:p.Lys3265Glu
XM_017009182.1:c.9793A>G	XP_016864671.1:p.Lys3265Glu
XM_017009185.1:c.4882A>G	XP_016864674.1:p.Lys1628Glu
XM_017009186.1:c.4435A>G	XP_016864675.1:p.Lys1479Glu
XM_017009188.1:c.3772A>G	XP_016864677.1:p.Lys1258Glu
XM_024454388.1:c.8698A>G	XP_024310156.1:p.Lys2900Glu
XM_024454389.1:c.8287A>G	XP_024310157.1:p.Lys2763Glu