Canonical Allele Identifier: CA3204411

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13883041T>C , CM000667.2:g.13883041T>C	GRCh38
NC_000005.9:g.13883150T>C , CM000667.1:g.13883150T>C	GRCh37
NC_000005.8:g.13936150T>C	NCBI36
NG_013081.1:g.66440A>G
NG_013081.2:g.66440A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.3037A>G MANE Select	NP_001360.1:p.Ser1013Gly
ENST00000265104.5:c.3037A>G MANE Select	ENSP00000265104.4:p.Ser1013Gly
NM_001369.2:c.3037A>G	NP_001360.1:p.Ser1013Gly
ENST00000265104.4:c.3037A>G	ENSP00000265104.4:p.Ser1013Gly
ENST00000681290.1:c.2992A>G	ENSP00000505288.1:p.Ser998Gly
XM_005248262.2:c.2992A>G	XP_005248319.1:p.Ser998Gly
XM_005248262.3:c.3145A>G	XP_005248319.2:p.Ser1049Gly
XM_011513990.1:c.3037A>G	XP_011512292.1:p.Ser1013Gly
XM_017009177.1:c.3145A>G	XP_016864666.1:p.Ser1049Gly
XM_017009178.1:c.2050A>G	XP_016864667.1:p.Ser684Gly
XM_017009179.2:c.2050A>G	XP_016864668.1:p.Ser684Gly
XM_017009180.1:c.3145A>G	XP_016864669.1:p.Ser1049Gly
XM_017009181.1:c.3145A>G	XP_016864670.1:p.Ser1049Gly
XM_017009182.1:c.3145A>G	XP_016864671.1:p.Ser1049Gly
XM_017009183.1:c.3145A>G	XP_016864672.1:p.Ser1049Gly
XM_017009184.1:c.3145A>G	XP_016864673.1:p.Ser1049Gly
XM_017009187.1:c.3145A>G	XP_016864676.1:p.Ser1049Gly
XM_024454388.1:c.2050A>G	XP_024310156.1:p.Ser684Gly
XM_024454389.1:c.1639A>G	XP_024310157.1:p.Ser547Gly
XR_001742034.1:n.3162A>G
XR_001742035.1:n.3162A>G
XR_925598.1:n.3244A>G