Canonical Allele Identifier: CA359188570
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692029T>A , CM000667.2:g.13692029T>A GRCh38
NC_000005.9:g.13692138T>A , CM000667.1:g.13692138T>A GRCh37
NC_000005.8:g.13745138T>A NCBI36
NG_013081.1:g.257452A>T
NG_013081.2:g.257452A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1163A>T
ENST00000265104.5:c.13830A>T MANE Select ENSP00000265104.4:p.Glu4610Asp
ENST00000681290.1:c.13785A>T ENSP00000505288.1:p.Glu4595Asp
ENST00000265104.4:c.13830A>T ENSP00000265104.4:p.Glu4610Asp
NM_001369.2:c.13830A>T NP_001360.1:p.Glu4610Asp
XM_005248262.2:c.13785A>T XP_005248319.1:p.Glu4595Asp
XM_005248262.3:c.13938A>T XP_005248319.2:p.Glu4646Asp
XM_017009177.1:c.13518A>T XP_016864666.1:p.Glu4506Asp
XM_017009178.1:c.12843A>T XP_016864667.1:p.Glu4281Asp
XM_017009179.2:c.12843A>T XP_016864668.1:p.Glu4281Asp
XM_017009185.1:c.9027A>T XP_016864674.1:p.Glu3009Asp
XM_017009186.1:c.8580A>T XP_016864675.1:p.Glu2860Asp
XM_017009188.1:c.7917A>T XP_016864677.1:p.Glu2639Asp
XM_024454388.1:c.12843A>T XP_024310156.1:p.Glu4281Asp
XM_024454389.1:c.12432A>T XP_024310157.1:p.Glu4144Asp
NM_001369.3:c.13830A>T MANE Select NP_001360.1:p.Glu4610Asp