Canonical Allele Identifier: CA3203508
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351080
dbSNP Id: rs368456533

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13830640A>G , CM000667.2:g.13830640A>G GRCh38
NC_000005.9:g.13830749A>G , CM000667.1:g.13830749A>G GRCh37
NC_000005.8:g.13883749A>G NCBI36
NG_013081.1:g.118841T>C
NG_013081.2:g.118841T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.6018T>C MANE Select ENSP00000265104.4:p.Cys2006=
ENST00000681290.1:c.5973T>C ENSP00000505288.1:p.Cys1991=
ENST00000265104.4:c.6018T>C ENSP00000265104.4:p.Cys2006=
NM_001369.2:c.6018T>C NP_001360.1:p.Cys2006=
XM_005248262.2:c.5973T>C XP_005248319.1:p.Cys1991=
XM_011513990.1:c.6018T>C XP_011512292.1:p.Cys2006=
XR_925598.1:n.6225T>C
XM_005248262.3:c.6126T>C XP_005248319.2:p.Cys2042=
XM_017009177.1:c.6126T>C XP_016864666.1:p.Cys2042=
XM_017009178.1:c.5031T>C XP_016864667.1:p.Cys1677=
XM_017009179.2:c.5031T>C XP_016864668.1:p.Cys1677=
XM_017009180.1:c.6126T>C XP_016864669.1:p.Cys2042=
XM_017009181.1:c.6126T>C XP_016864670.1:p.Cys2042=
XM_017009182.1:c.6126T>C XP_016864671.1:p.Cys2042=
XM_017009183.1:c.6126T>C XP_016864672.1:p.Cys2042=
XM_017009184.1:c.6126T>C XP_016864673.1:p.Cys2042=
XM_017009185.1:c.1215T>C XP_016864674.1:p.Cys405=
XM_017009186.1:c.768T>C XP_016864675.1:p.Cys256=
XM_017009187.1:c.6126T>C XP_016864676.1:p.Cys2042=
XM_017009188.1:c.105T>C XP_016864677.1:p.Cys35=
XM_024454388.1:c.5031T>C XP_024310156.1:p.Cys1677=
XM_024454389.1:c.4620T>C XP_024310157.1:p.Cys1540=
XR_001742034.1:n.6143T>C
XR_001742035.1:n.6143T>C
NM_001369.3:c.6018T>C MANE Select NP_001360.1:p.Cys2006=