Canonical Allele Identifier: CA359210998
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841733C>A , CM000667.2:g.13841733C>A GRCh38
NC_000005.9:g.13841842C>A , CM000667.1:g.13841842C>A GRCh37
NC_000005.8:g.13894842C>A NCBI36
NG_013081.1:g.107748G>T
NG_013081.2:g.107748G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5443G>T MANE Select ENSP00000265104.4:p.Gly1815Cys
ENST00000681290.1:c.5398G>T ENSP00000505288.1:p.Gly1800Cys
ENST00000265104.4:c.5443G>T ENSP00000265104.4:p.Gly1815Cys
NM_001369.2:c.5443G>T NP_001360.1:p.Gly1815Cys
XM_005248262.2:c.5398G>T XP_005248319.1:p.Gly1800Cys
XM_011513990.1:c.5443G>T XP_011512292.1:p.Gly1815Cys
XR_925598.1:n.5650G>T
XM_005248262.3:c.5551G>T XP_005248319.2:p.Gly1851Cys
XM_017009177.1:c.5551G>T XP_016864666.1:p.Gly1851Cys
XM_017009178.1:c.4456G>T XP_016864667.1:p.Gly1486Cys
XM_017009179.2:c.4456G>T XP_016864668.1:p.Gly1486Cys
XM_017009180.1:c.5551G>T XP_016864669.1:p.Gly1851Cys
XM_017009181.1:c.5551G>T XP_016864670.1:p.Gly1851Cys
XM_017009182.1:c.5551G>T XP_016864671.1:p.Gly1851Cys
XM_017009183.1:c.5551G>T XP_016864672.1:p.Gly1851Cys
XM_017009184.1:c.5551G>T XP_016864673.1:p.Gly1851Cys
XM_017009185.1:c.640G>T XP_016864674.1:p.Gly214Cys
XM_017009186.1:c.193G>T XP_016864675.1:p.Gly65Cys
XM_017009187.1:c.5551G>T XP_016864676.1:p.Gly1851Cys
XM_024454388.1:c.4456G>T XP_024310156.1:p.Gly1486Cys
XM_024454389.1:c.4045G>T XP_024310157.1:p.Gly1349Cys
XR_001742034.1:n.5568G>T
XR_001742035.1:n.5568G>T
NM_001369.3:c.5443G>T MANE Select NP_001360.1:p.Gly1815Cys