Canonical Allele Identifier: CA359194888

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13820448G>A , CM000667.2:g.13820448G>A	GRCh38
NC_000005.9:g.13820557G>A , CM000667.1:g.13820557G>A	GRCh37
NC_000005.8:g.13873557G>A	NCBI36
NG_013081.1:g.129033C>T
NG_013081.2:g.129033C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6739C>T MANE Select	NP_001360.1:p.Gln2247Ter
ENST00000265104.5:c.6739C>T MANE Select	ENSP00000265104.4:p.Gln2247Ter
NM_001369.2:c.6739C>T	NP_001360.1:p.Gln2247Ter
ENST00000265104.4:c.6739C>T	ENSP00000265104.4:p.Gln2247Ter
ENST00000681290.1:c.6694C>T	ENSP00000505288.1:p.Gln2232Ter
ENST00000683090.1:n.1670C>T
XM_005248262.2:c.6694C>T	XP_005248319.1:p.Gln2232Ter
XM_005248262.3:c.6847C>T	XP_005248319.2:p.Gln2283Ter
XM_011513990.1:c.6739C>T	XP_011512292.1:p.Gln2247Ter
XM_017009177.1:c.6847C>T	XP_016864666.1:p.Gln2283Ter
XM_017009178.1:c.5752C>T	XP_016864667.1:p.Gln1918Ter
XM_017009179.2:c.5752C>T	XP_016864668.1:p.Gln1918Ter
XM_017009180.1:c.6847C>T	XP_016864669.1:p.Gln2283Ter
XM_017009181.1:c.6847C>T	XP_016864670.1:p.Gln2283Ter
XM_017009182.1:c.6847C>T	XP_016864671.1:p.Gln2283Ter
XM_017009183.1:c.6847C>T	XP_016864672.1:p.Gln2283Ter
XM_017009184.1:c.6847C>T	XP_016864673.1:p.Gln2283Ter
XM_017009185.1:c.1936C>T	XP_016864674.1:p.Gln646Ter
XM_017009186.1:c.1489C>T	XP_016864675.1:p.Gln497Ter
XM_017009187.1:c.6847C>T	XP_016864676.1:p.Gln2283Ter
XM_017009188.1:c.826C>T	XP_016864677.1:p.Gln276Ter
XM_024454388.1:c.5752C>T	XP_024310156.1:p.Gln1918Ter
XM_024454389.1:c.5341C>T	XP_024310157.1:p.Gln1781Ter
XR_001742034.1:n.6864C>T
XR_001742035.1:n.6864C>T
XR_925598.1:n.6946C>T