Canonical Allele Identifier: CA359224811
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735872A>T , CM000667.2:g.13735872A>T GRCh38
NC_000005.9:g.13735981A>T , CM000667.1:g.13735981A>T GRCh37
NC_000005.8:g.13788981A>T NCBI36
NG_013081.1:g.213609T>A
NG_013081.2:g.213609T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11516T>A MANE Select ENSP00000265104.4:p.Met3839Lys
ENST00000681290.1:c.11471T>A ENSP00000505288.1:p.Met3824Lys
ENST00000265104.4:c.11516T>A ENSP00000265104.4:p.Met3839Lys
NM_001369.2:c.11516T>A NP_001360.1:p.Met3839Lys
XM_005248262.2:c.11471T>A XP_005248319.1:p.Met3824Lys
XM_005248262.3:c.11624T>A XP_005248319.2:p.Met3875Lys
XM_017009177.1:c.11624T>A XP_016864666.1:p.Met3875Lys
XM_017009178.1:c.10529T>A XP_016864667.1:p.Met3510Lys
XM_017009179.2:c.10529T>A XP_016864668.1:p.Met3510Lys
XM_017009180.1:c.11624T>A XP_016864669.1:p.Met3875Lys
XM_017009181.1:c.11624T>A XP_016864670.1:p.Met3875Lys
XM_017009182.1:c.11380T>A XP_016864671.1:p.Cys3794Ser
XM_017009185.1:c.6713T>A XP_016864674.1:p.Met2238Lys
XM_017009186.1:c.6266T>A XP_016864675.1:p.Met2089Lys
XM_017009188.1:c.5603T>A XP_016864677.1:p.Met1868Lys
XM_024454388.1:c.10529T>A XP_024310156.1:p.Met3510Lys
XM_024454389.1:c.10118T>A XP_024310157.1:p.Met3373Lys
NM_001369.3:c.11516T>A MANE Select NP_001360.1:p.Met3839Lys