Canonical Allele Identifier: CA3203473

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830166T>C , CM000667.2:g.13830166T>C	GRCh38
NC_000005.9:g.13830275T>C , CM000667.1:g.13830275T>C	GRCh37
NC_000005.8:g.13883275T>C	NCBI36
NG_013081.1:g.119315A>G
NG_013081.2:g.119315A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6109A>G MANE Select	NP_001360.1:p.Ile2037Val
ENST00000265104.5:c.6109A>G MANE Select	ENSP00000265104.4:p.Ile2037Val
NM_001369.2:c.6109A>G	NP_001360.1:p.Ile2037Val
ENST00000265104.4:c.6109A>G	ENSP00000265104.4:p.Ile2037Val
ENST00000681290.1:c.6064A>G	ENSP00000505288.1:p.Ile2022Val
ENST00000683090.1:n.1040A>G
XM_005248262.2:c.6064A>G	XP_005248319.1:p.Ile2022Val
XM_005248262.3:c.6217A>G	XP_005248319.2:p.Ile2073Val
XM_011513990.1:c.6109A>G	XP_011512292.1:p.Ile2037Val
XM_017009177.1:c.6217A>G	XP_016864666.1:p.Ile2073Val
XM_017009178.1:c.5122A>G	XP_016864667.1:p.Ile1708Val
XM_017009179.2:c.5122A>G	XP_016864668.1:p.Ile1708Val
XM_017009180.1:c.6217A>G	XP_016864669.1:p.Ile2073Val
XM_017009181.1:c.6217A>G	XP_016864670.1:p.Ile2073Val
XM_017009182.1:c.6217A>G	XP_016864671.1:p.Ile2073Val
XM_017009183.1:c.6217A>G	XP_016864672.1:p.Ile2073Val
XM_017009184.1:c.6217A>G	XP_016864673.1:p.Ile2073Val
XM_017009185.1:c.1306A>G	XP_016864674.1:p.Ile436Val
XM_017009186.1:c.859A>G	XP_016864675.1:p.Ile287Val
XM_017009187.1:c.6217A>G	XP_016864676.1:p.Ile2073Val
XM_017009188.1:c.196A>G	XP_016864677.1:p.Ile66Val
XM_024454388.1:c.5122A>G	XP_024310156.1:p.Ile1708Val
XM_024454389.1:c.4711A>G	XP_024310157.1:p.Ile1571Val
XR_001742034.1:n.6234A>G
XR_001742035.1:n.6234A>G
XR_925598.1:n.6316A>G