Canonical Allele Identifier: CA359188766
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692125A>T , CM000667.2:g.13692125A>T GRCh38
NC_000005.9:g.13692234A>T , CM000667.1:g.13692234A>T GRCh37
NC_000005.8:g.13745234A>T NCBI36
NG_013081.1:g.257356T>A
NG_013081.2:g.257356T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1067T>A
ENST00000265104.5:c.13734T>A MANE Select ENSP00000265104.4:p.Asp4578Glu
ENST00000681290.1:c.13689T>A ENSP00000505288.1:p.Asp4563Glu
ENST00000265104.4:c.13734T>A ENSP00000265104.4:p.Asp4578Glu
NM_001369.2:c.13734T>A NP_001360.1:p.Asp4578Glu
XM_005248262.2:c.13689T>A XP_005248319.1:p.Asp4563Glu
XM_005248262.3:c.13842T>A XP_005248319.2:p.Asp4614Glu
XM_017009177.1:c.13422T>A XP_016864666.1:p.Asp4474Glu
XM_017009178.1:c.12747T>A XP_016864667.1:p.Asp4249Glu
XM_017009179.2:c.12747T>A XP_016864668.1:p.Asp4249Glu
XM_017009185.1:c.8931T>A XP_016864674.1:p.Asp2977Glu
XM_017009186.1:c.8484T>A XP_016864675.1:p.Asp2828Glu
XM_017009188.1:c.7821T>A XP_016864677.1:p.Asp2607Glu
XM_024454388.1:c.12747T>A XP_024310156.1:p.Asp4249Glu
XM_024454389.1:c.12336T>A XP_024310157.1:p.Asp4112Glu
NM_001369.3:c.13734T>A MANE Select NP_001360.1:p.Asp4578Glu