Canonical Allele Identifier: CA359208089
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776475A>T , CM000667.2:g.13776475A>T GRCh38
NC_000005.9:g.13776584A>T , CM000667.1:g.13776584A>T GRCh37
NC_000005.8:g.13829584A>T NCBI36
NG_013081.1:g.173006T>A
NG_013081.2:g.173006T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9337T>A MANE Select ENSP00000265104.4:p.Trp3113Arg
ENST00000681290.1:c.9292T>A ENSP00000505288.1:p.Trp3098Arg
ENST00000265104.4:c.9337T>A ENSP00000265104.4:p.Trp3113Arg
NM_001369.2:c.9337T>A NP_001360.1:p.Trp3113Arg
XM_005248262.2:c.9292T>A XP_005248319.1:p.Trp3098Arg
XM_005248262.3:c.9445T>A XP_005248319.2:p.Trp3149Arg
XM_017009177.1:c.9445T>A XP_016864666.1:p.Trp3149Arg
XM_017009178.1:c.8350T>A XP_016864667.1:p.Trp2784Arg
XM_017009179.2:c.8350T>A XP_016864668.1:p.Trp2784Arg
XM_017009180.1:c.9445T>A XP_016864669.1:p.Trp3149Arg
XM_017009181.1:c.9445T>A XP_016864670.1:p.Trp3149Arg
XM_017009182.1:c.9445T>A XP_016864671.1:p.Trp3149Arg
XM_017009183.1:c.9445T>A XP_016864672.1:p.Trp3149Arg
XM_017009185.1:c.4534T>A XP_016864674.1:p.Trp1512Arg
XM_017009186.1:c.4087T>A XP_016864675.1:p.Trp1363Arg
XM_017009188.1:c.3424T>A XP_016864677.1:p.Trp1142Arg
XM_024454388.1:c.8350T>A XP_024310156.1:p.Trp2784Arg
XM_024454389.1:c.7939T>A XP_024310157.1:p.Trp2647Arg
NM_001369.3:c.9337T>A MANE Select NP_001360.1:p.Trp3113Arg