Canonical Allele Identifier: CA359207866
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776453T>A , CM000667.2:g.13776453T>A GRCh38
NC_000005.9:g.13776562T>A , CM000667.1:g.13776562T>A GRCh37
NC_000005.8:g.13829562T>A NCBI36
NG_013081.1:g.173028A>T
NG_013081.2:g.173028A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.9359A>T MANE Select ENSP00000265104.4:p.Asp3120Val
ENST00000681290.1:c.9314A>T ENSP00000505288.1:p.Asp3105Val
ENST00000265104.4:c.9359A>T ENSP00000265104.4:p.Asp3120Val
NM_001369.2:c.9359A>T NP_001360.1:p.Asp3120Val
XM_005248262.2:c.9314A>T XP_005248319.1:p.Asp3105Val
XM_005248262.3:c.9467A>T XP_005248319.2:p.Asp3156Val
XM_017009177.1:c.9467A>T XP_016864666.1:p.Asp3156Val
XM_017009178.1:c.8372A>T XP_016864667.1:p.Asp2791Val
XM_017009179.2:c.8372A>T XP_016864668.1:p.Asp2791Val
XM_017009180.1:c.9467A>T XP_016864669.1:p.Asp3156Val
XM_017009181.1:c.9467A>T XP_016864670.1:p.Asp3156Val
XM_017009182.1:c.9467A>T XP_016864671.1:p.Asp3156Val
XM_017009183.1:c.9467A>T XP_016864672.1:p.Asp3156Val
XM_017009185.1:c.4556A>T XP_016864674.1:p.Asp1519Val
XM_017009186.1:c.4109A>T XP_016864675.1:p.Asp1370Val
XM_017009188.1:c.3446A>T XP_016864677.1:p.Asp1149Val
XM_024454388.1:c.8372A>T XP_024310156.1:p.Asp2791Val
XM_024454389.1:c.7961A>T XP_024310157.1:p.Asp2654Val
NM_001369.3:c.9359A>T MANE Select NP_001360.1:p.Asp3120Val