Canonical Allele Identifier: CA1528439498
Community Standard Title: NM_001369.3(DNAH5):c.8465G= (p.Trp2822=)
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13788898C= , CM000667.2:g.13788898C= GRCh38
NC_000005.9:g.13789007C= , CM000667.1:g.13789007C= GRCh37
NC_000005.8:g.13842007C= NCBI36
NG_013081.1:g.160583G=
NG_013081.2:g.160583G=

Transcript Alleles

HGVS Amino-acid Change
NM_001369.3:c.8465G= MANE Select NP_001360.1:p.Trp2822=
ENST00000265104.5:c.8465G= MANE Select ENSP00000265104.4:p.Trp2822=
NM_001369.2:c.8465G= NP_001360.1:p.Trp2822=
ENST00000265104.4:c.8465G= ENSP00000265104.4:p.Trp2822=
ENST00000681290.1:c.8420G= ENSP00000505288.1:p.Trp2807=
XM_005248262.2:c.8420G= XP_005248319.1:p.Trp2807=
XM_005248262.3:c.8573G= XP_005248319.2:p.Trp2858=
XM_011513990.1:c.8465G= XP_011512292.1:p.Trp2822=
XM_017009177.1:c.8573G= XP_016864666.1:p.Trp2858=
XM_017009178.1:c.7478G= XP_016864667.1:p.Trp2493=
XM_017009179.2:c.7478G= XP_016864668.1:p.Trp2493=
XM_017009180.1:c.8573G= XP_016864669.1:p.Trp2858=
XM_017009181.1:c.8573G= XP_016864670.1:p.Trp2858=
XM_017009182.1:c.8573G= XP_016864671.1:p.Trp2858=
XM_017009183.1:c.8573G= XP_016864672.1:p.Trp2858=
XM_017009184.1:c.8573G= XP_016864673.1:p.Trp2858=
XM_017009185.1:c.3662G= XP_016864674.1:p.Trp1221=
XM_017009186.1:c.3215G= XP_016864675.1:p.Trp1072=
XM_017009188.1:c.2552G= XP_016864677.1:p.Trp851=
XM_024454388.1:c.7478G= XP_024310156.1:p.Trp2493=
XM_024454389.1:c.7067G= XP_024310157.1:p.Trp2356=
XR_001742034.1:n.8590G=
XR_001742035.1:n.8590G=
XR_925598.1:n.8672G=