Canonical Allele Identifier: CA359201718

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830187A>C , CM000667.2:g.13830187A>C	GRCh38
NC_000005.9:g.13830296A>C , CM000667.1:g.13830296A>C	GRCh37
NC_000005.8:g.13883296A>C	NCBI36
NG_013081.1:g.119294T>G
NG_013081.2:g.119294T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6088T>G MANE Select	NP_001360.1:p.Cys2030Gly
ENST00000265104.5:c.6088T>G MANE Select	ENSP00000265104.4:p.Cys2030Gly
NM_001369.2:c.6088T>G	NP_001360.1:p.Cys2030Gly
ENST00000265104.4:c.6088T>G	ENSP00000265104.4:p.Cys2030Gly
ENST00000681290.1:c.6043T>G	ENSP00000505288.1:p.Cys2015Gly
ENST00000683090.1:n.1019T>G
XM_005248262.2:c.6043T>G	XP_005248319.1:p.Cys2015Gly
XM_005248262.3:c.6196T>G	XP_005248319.2:p.Cys2066Gly
XM_011513990.1:c.6088T>G	XP_011512292.1:p.Cys2030Gly
XM_017009177.1:c.6196T>G	XP_016864666.1:p.Cys2066Gly
XM_017009178.1:c.5101T>G	XP_016864667.1:p.Cys1701Gly
XM_017009179.2:c.5101T>G	XP_016864668.1:p.Cys1701Gly
XM_017009180.1:c.6196T>G	XP_016864669.1:p.Cys2066Gly
XM_017009181.1:c.6196T>G	XP_016864670.1:p.Cys2066Gly
XM_017009182.1:c.6196T>G	XP_016864671.1:p.Cys2066Gly
XM_017009183.1:c.6196T>G	XP_016864672.1:p.Cys2066Gly
XM_017009184.1:c.6196T>G	XP_016864673.1:p.Cys2066Gly
XM_017009185.1:c.1285T>G	XP_016864674.1:p.Cys429Gly
XM_017009186.1:c.838T>G	XP_016864675.1:p.Cys280Gly
XM_017009187.1:c.6196T>G	XP_016864676.1:p.Cys2066Gly
XM_017009188.1:c.175T>G	XP_016864677.1:p.Cys59Gly
XM_024454388.1:c.5101T>G	XP_024310156.1:p.Cys1701Gly
XM_024454389.1:c.4690T>G	XP_024310157.1:p.Cys1564Gly
XR_001742034.1:n.6213T>G
XR_001742035.1:n.6213T>G
XR_925598.1:n.6295T>G