Canonical Allele Identifier: CA359191111
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753297A>T , CM000667.2:g.13753297A>T GRCh38
NC_000005.9:g.13753406A>T , CM000667.1:g.13753406A>T GRCh37
NC_000005.8:g.13806406A>T NCBI36
NG_013081.1:g.196184T>A
NG_013081.2:g.196184T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10808T>A MANE Select ENSP00000265104.4:p.Leu3603Ter
ENST00000681290.1:c.10763T>A ENSP00000505288.1:p.Leu3588Ter
ENST00000265104.4:c.10808T>A ENSP00000265104.4:p.Leu3603Ter
NM_001369.2:c.10808T>A NP_001360.1:p.Leu3603Ter
XM_005248262.2:c.10763T>A XP_005248319.1:p.Leu3588Ter
XM_005248262.3:c.10916T>A XP_005248319.2:p.Leu3639Ter
XM_017009177.1:c.10916T>A XP_016864666.1:p.Leu3639Ter
XM_017009178.1:c.9821T>A XP_016864667.1:p.Leu3274Ter
XM_017009179.2:c.9821T>A XP_016864668.1:p.Leu3274Ter
XM_017009180.1:c.10916T>A XP_016864669.1:p.Leu3639Ter
XM_017009181.1:c.10916T>A XP_016864670.1:p.Leu3639Ter
XM_017009182.1:c.10916T>A XP_016864671.1:p.Leu3639Ter
XM_017009185.1:c.6005T>A XP_016864674.1:p.Leu2002Ter
XM_017009186.1:c.5558T>A XP_016864675.1:p.Leu1853Ter
XM_017009188.1:c.4895T>A XP_016864677.1:p.Leu1632Ter
XM_024454388.1:c.9821T>A XP_024310156.1:p.Leu3274Ter
XM_024454389.1:c.9410T>A XP_024310157.1:p.Leu3137Ter
NM_001369.3:c.10808T>A MANE Select NP_001360.1:p.Leu3603Ter