Canonical Allele Identifier: CA359204258
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770786C>A , CM000667.2:g.13770786C>A GRCh38
NC_000005.9:g.13770895C>A , CM000667.1:g.13770895C>A GRCh37
NC_000005.8:g.13823895C>A NCBI36
NG_013081.1:g.178695G>T
NG_013081.2:g.178695G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9568G>T MANE Select ENSP00000265104.4:p.Gly3190Ter
ENST00000681290.1:c.9523G>T ENSP00000505288.1:p.Gly3175Ter
ENST00000265104.4:c.9568G>T ENSP00000265104.4:p.Gly3190Ter
ENST00000504001.3:n.280G>T
NM_001369.2:c.9568G>T NP_001360.1:p.Gly3190Ter
XM_005248262.2:c.9523G>T XP_005248319.1:p.Gly3175Ter
XM_005248262.3:c.9676G>T XP_005248319.2:p.Gly3226Ter
XM_017009177.1:c.9676G>T XP_016864666.1:p.Gly3226Ter
XM_017009178.1:c.8581G>T XP_016864667.1:p.Gly2861Ter
XM_017009179.2:c.8581G>T XP_016864668.1:p.Gly2861Ter
XM_017009180.1:c.9676G>T XP_016864669.1:p.Gly3226Ter
XM_017009181.1:c.9676G>T XP_016864670.1:p.Gly3226Ter
XM_017009182.1:c.9676G>T XP_016864671.1:p.Gly3226Ter
XM_017009183.1:c.9676G>T XP_016864672.1:p.Gly3226Ter
XM_017009185.1:c.4765G>T XP_016864674.1:p.Gly1589Ter
XM_017009186.1:c.4318G>T XP_016864675.1:p.Gly1440Ter
XM_017009188.1:c.3655G>T XP_016864677.1:p.Gly1219Ter
XM_024454388.1:c.8581G>T XP_024310156.1:p.Gly2861Ter
XM_024454389.1:c.8170G>T XP_024310157.1:p.Gly2724Ter
NM_001369.3:c.9568G>T MANE Select NP_001360.1:p.Gly3190Ter