Canonical Allele Identifier: CA1528477684
Community Standard Title: NM_001369.3(DNAH5):c.4053+1G=
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13867773C= , CM000667.2:g.13867773C= GRCh38
NC_000005.9:g.13867882C= , CM000667.1:g.13867882C= GRCh37
NC_000005.8:g.13920882C= NCBI36
NG_013081.1:g.81708G=
NG_013081.2:g.81708G=

Transcript Alleles

HGVS Amino-acid Change
NM_001369.3:c.4053+1G= MANE Select NP_001360.1:n.4053+1G=
ENST00000265104.5:c.4053+1G= MANE Select ENSP00000265104.4:n.4053+1G=
NM_001369.2:c.4053+1G= NP_001360.1:n.4053+1G=
ENST00000265104.4:c.4053+1G= ENSP00000265104.4:n.4053+1G=
ENST00000681290.1:c.4008+1G= ENSP00000505288.1:n.4008+1G=
XM_005248262.2:c.4008+1G= XP_005248319.1:n.4008+1G=
XM_005248262.3:c.4161+1G= XP_005248319.2:n.4161+1G=
XM_011513990.1:c.4053+1G= XP_011512292.1:n.4053+1G=
XM_017009177.1:c.4161+1G= XP_016864666.1:n.4161+1G=
XM_017009178.1:c.3066+1G= XP_016864667.1:n.3066+1G=
XM_017009179.2:c.3066+1G= XP_016864668.1:n.3066+1G=
XM_017009180.1:c.4161+1G= XP_016864669.1:n.4161+1G=
XM_017009181.1:c.4161+1G= XP_016864670.1:n.4161+1G=
XM_017009182.1:c.4161+1G= XP_016864671.1:n.4161+1G=
XM_017009183.1:c.4161+1G= XP_016864672.1:n.4161+1G=
XM_017009184.1:c.4161+1G= XP_016864673.1:n.4161+1G=
XM_017009187.1:c.4161+1G= XP_016864676.1:n.4161+1G=
XM_024454388.1:c.3066+1G= XP_024310156.1:n.3066+1G=
XM_024454389.1:c.2655+1G= XP_024310157.1:n.2655+1G=
XR_001742034.1:n.4178+1G=
XR_001742035.1:n.4178+1G=
XR_925598.1:n.4260+1G=