Canonical Allele Identifier: CA359222610

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735153T>A , CM000667.2:g.13735153T>A	GRCh38
NC_000005.9:g.13735262T>A , CM000667.1:g.13735262T>A	GRCh37
NC_000005.8:g.13788262T>A	NCBI36
NG_013081.1:g.214328A>T
NG_013081.2:g.214328A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11739A>T MANE Select	NP_001360.1:p.Glu3913Asp
ENST00000265104.5:c.11739A>T MANE Select	ENSP00000265104.4:p.Glu3913Asp
NM_001369.2:c.11739A>T	NP_001360.1:p.Glu3913Asp
ENST00000265104.4:c.11739A>T	ENSP00000265104.4:p.Glu3913Asp
ENST00000681290.1:c.11694A>T	ENSP00000505288.1:p.Glu3898Asp
XM_005248262.2:c.11694A>T	XP_005248319.1:p.Glu3898Asp
XM_005248262.3:c.11847A>T	XP_005248319.2:p.Glu3949Asp
XM_017009177.1:c.11847A>T	XP_016864666.1:p.Glu3949Asp
XM_017009178.1:c.10752A>T	XP_016864667.1:p.Glu3584Asp
XM_017009179.2:c.10752A>T	XP_016864668.1:p.Glu3584Asp
XM_017009180.1:c.11847A>T	XP_016864669.1:p.Glu3949Asp
XM_017009181.1:c.11847A>T	XP_016864670.1:p.Glu3949Asp
XM_017009185.1:c.6936A>T	XP_016864674.1:p.Glu2312Asp
XM_017009186.1:c.6489A>T	XP_016864675.1:p.Glu2163Asp
XM_017009188.1:c.5826A>T	XP_016864677.1:p.Glu1942Asp
XM_024454388.1:c.10752A>T	XP_024310156.1:p.Glu3584Asp
XM_024454389.1:c.10341A>T	XP_024310157.1:p.Glu3447Asp