Canonical Allele Identifier: CA3201732

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721165T>A , CM000667.2:g.13721165T>A	GRCh38
NC_000005.9:g.13721274T>A , CM000667.1:g.13721274T>A	GRCh37
NC_000005.8:g.13774274T>A	NCBI36
NG_013081.1:g.228316A>T
NG_013081.2:g.228316A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12114A>T MANE Select	NP_001360.1:p.Glu4038Asp
ENST00000265104.5:c.12114A>T MANE Select	ENSP00000265104.4:p.Glu4038Asp
NM_001369.2:c.12114A>T	NP_001360.1:p.Glu4038Asp
ENST00000265104.4:c.12114A>T	ENSP00000265104.4:p.Glu4038Asp
ENST00000681290.1:c.12069A>T	ENSP00000505288.1:p.Glu4023Asp
XM_005248262.2:c.12069A>T	XP_005248319.1:p.Glu4023Asp
XM_005248262.3:c.12222A>T	XP_005248319.2:p.Glu4074Asp
XM_017009177.1:c.12222A>T	XP_016864666.1:p.Glu4074Asp
XM_017009178.1:c.11127A>T	XP_016864667.1:p.Glu3709Asp
XM_017009179.2:c.11127A>T	XP_016864668.1:p.Glu3709Asp
XM_017009180.1:c.12222A>T	XP_016864669.1:p.Glu4074Asp
XM_017009185.1:c.7311A>T	XP_016864674.1:p.Glu2437Asp
XM_017009186.1:c.6864A>T	XP_016864675.1:p.Glu2288Asp
XM_017009188.1:c.6201A>T	XP_016864677.1:p.Glu2067Asp
XM_024454388.1:c.11127A>T	XP_024310156.1:p.Glu3709Asp
XM_024454389.1:c.10716A>T	XP_024310157.1:p.Glu3572Asp