Canonical Allele Identifier: CA1528403732
Community Standard Title: NM_001369.3(DNAH5):c.13331G= (p.Trp4444=)
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708130C= , CM000667.2:g.13708130C= GRCh38
NC_000005.9:g.13708239C= , CM000667.1:g.13708239C= GRCh37
NC_000005.8:g.13761239C= NCBI36
NG_013081.1:g.241351G=
NG_013081.2:g.241351G=

Transcript Alleles

HGVS Amino-acid Change
NM_001369.3:c.13331G= MANE Select NP_001360.1:p.Trp4444=
ENST00000265104.5:c.13331G= MANE Select ENSP00000265104.4:p.Trp4444=
NM_001369.2:c.13331G= NP_001360.1:p.Trp4444=
ENST00000265104.4:c.13331G= ENSP00000265104.4:p.Trp4444=
ENST00000681290.1:c.13286G= ENSP00000505288.1:p.Trp4429=
ENST00000683611.1:n.664G=
XM_005248262.2:c.13286G= XP_005248319.1:p.Trp4429=
XM_005248262.3:c.13439G= XP_005248319.2:p.Trp4480=
XM_017009177.1:c.13019G= XP_016864666.1:p.Trp4340=
XM_017009178.1:c.12344G= XP_016864667.1:p.Trp4115=
XM_017009179.2:c.12344G= XP_016864668.1:p.Trp4115=
XM_017009185.1:c.8528G= XP_016864674.1:p.Trp2843=
XM_017009186.1:c.8081G= XP_016864675.1:p.Trp2694=
XM_017009188.1:c.7418G= XP_016864677.1:p.Trp2473=
XM_024454388.1:c.12344G= XP_024310156.1:p.Trp4115=
XM_024454389.1:c.11933G= XP_024310157.1:p.Trp3978=