Canonical Allele Identifier: CA3202956
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 520775
dbSNP Id: rs375053470

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13794031G>A , CM000667.2:g.13794031G>A GRCh38
NC_000005.9:g.13794140G>A , CM000667.1:g.13794140G>A GRCh37
NC_000005.8:g.13847140G>A NCBI36
NG_013081.1:g.155450C>T
NG_013081.2:g.155450C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.7915C>T MANE Select ENSP00000265104.4:p.Arg2639Ter
ENST00000681290.1:c.7870C>T ENSP00000505288.1:p.Arg2624Ter
ENST00000265104.4:c.7915C>T ENSP00000265104.4:p.Arg2639Ter
NM_001369.2:c.7915C>T NP_001360.1:p.Arg2639Ter
XM_005248262.2:c.7870C>T XP_005248319.1:p.Arg2624Ter
XM_011513990.1:c.7915C>T XP_011512292.1:p.Arg2639Ter
XR_925598.1:n.8122C>T
XM_005248262.3:c.8023C>T XP_005248319.2:p.Arg2675Ter
XM_017009177.1:c.8023C>T XP_016864666.1:p.Arg2675Ter
XM_017009178.1:c.6928C>T XP_016864667.1:p.Arg2310Ter
XM_017009179.2:c.6928C>T XP_016864668.1:p.Arg2310Ter
XM_017009180.1:c.8023C>T XP_016864669.1:p.Arg2675Ter
XM_017009181.1:c.8023C>T XP_016864670.1:p.Arg2675Ter
XM_017009182.1:c.8023C>T XP_016864671.1:p.Arg2675Ter
XM_017009183.1:c.8023C>T XP_016864672.1:p.Arg2675Ter
XM_017009184.1:c.8023C>T XP_016864673.1:p.Arg2675Ter
XM_017009185.1:c.3112C>T XP_016864674.1:p.Arg1038Ter
XM_017009186.1:c.2665C>T XP_016864675.1:p.Arg889Ter
XM_017009187.1:c.*18C>T XP_016864676.1:p.=
XM_017009188.1:c.2002C>T XP_016864677.1:p.Arg668Ter
XM_024454388.1:c.6928C>T XP_024310156.1:p.Arg2310Ter
XM_024454389.1:c.6517C>T XP_024310157.1:p.Arg2173Ter
XR_001742034.1:n.8040C>T
XR_001742035.1:n.8040C>T
NM_001369.3:c.7915C>T MANE Select NP_001360.1:p.Arg2639Ter