Canonical Allele Identifier: CA359201636
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769013C>G , CM000667.2:g.13769013C>G GRCh38
NC_000005.9:g.13769122C>G , CM000667.1:g.13769122C>G GRCh37
NC_000005.8:g.13822122C>G NCBI36
NG_013081.1:g.180468G>C
NG_013081.2:g.180468G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9844G>C MANE Select ENSP00000265104.4:p.Glu3282Gln
ENST00000681290.1:c.9799G>C ENSP00000505288.1:p.Glu3267Gln
ENST00000265104.4:c.9844G>C ENSP00000265104.4:p.Glu3282Gln
ENST00000504001.3:n.556G>C
NM_001369.2:c.9844G>C NP_001360.1:p.Glu3282Gln
XM_005248262.2:c.9799G>C XP_005248319.1:p.Glu3267Gln
XM_005248262.3:c.9952G>C XP_005248319.2:p.Glu3318Gln
XM_017009177.1:c.9952G>C XP_016864666.1:p.Glu3318Gln
XM_017009178.1:c.8857G>C XP_016864667.1:p.Glu2953Gln
XM_017009179.2:c.8857G>C XP_016864668.1:p.Glu2953Gln
XM_017009180.1:c.9952G>C XP_016864669.1:p.Glu3318Gln
XM_017009181.1:c.9952G>C XP_016864670.1:p.Glu3318Gln
XM_017009182.1:c.9952G>C XP_016864671.1:p.Glu3318Gln
XM_017009185.1:c.5041G>C XP_016864674.1:p.Glu1681Gln
XM_017009186.1:c.4594G>C XP_016864675.1:p.Glu1532Gln
XM_017009188.1:c.3931G>C XP_016864677.1:p.Glu1311Gln
XM_024454388.1:c.8857G>C XP_024310156.1:p.Glu2953Gln
XM_024454389.1:c.8446G>C XP_024310157.1:p.Glu2816Gln
NM_001369.3:c.9844G>C MANE Select NP_001360.1:p.Glu3282Gln