Canonical Allele Identifier: CA359194855

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13820433G>A , CM000667.2:g.13820433G>A	GRCh38
NC_000005.9:g.13820542G>A , CM000667.1:g.13820542G>A	GRCh37
NC_000005.8:g.13873542G>A	NCBI36
NG_013081.1:g.129048C>T
NG_013081.2:g.129048C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6754C>T MANE Select	NP_001360.1:p.Gln2252Ter
ENST00000265104.5:c.6754C>T MANE Select	ENSP00000265104.4:p.Gln2252Ter
NM_001369.2:c.6754C>T	NP_001360.1:p.Gln2252Ter
ENST00000265104.4:c.6754C>T	ENSP00000265104.4:p.Gln2252Ter
ENST00000681290.1:c.6709C>T	ENSP00000505288.1:p.Gln2237Ter
ENST00000683090.1:n.1685C>T
XM_005248262.2:c.6709C>T	XP_005248319.1:p.Gln2237Ter
XM_005248262.3:c.6862C>T	XP_005248319.2:p.Gln2288Ter
XM_011513990.1:c.6754C>T	XP_011512292.1:p.Gln2252Ter
XM_017009177.1:c.6862C>T	XP_016864666.1:p.Gln2288Ter
XM_017009178.1:c.5767C>T	XP_016864667.1:p.Gln1923Ter
XM_017009179.2:c.5767C>T	XP_016864668.1:p.Gln1923Ter
XM_017009180.1:c.6862C>T	XP_016864669.1:p.Gln2288Ter
XM_017009181.1:c.6862C>T	XP_016864670.1:p.Gln2288Ter
XM_017009182.1:c.6862C>T	XP_016864671.1:p.Gln2288Ter
XM_017009183.1:c.6862C>T	XP_016864672.1:p.Gln2288Ter
XM_017009184.1:c.6862C>T	XP_016864673.1:p.Gln2288Ter
XM_017009185.1:c.1951C>T	XP_016864674.1:p.Gln651Ter
XM_017009186.1:c.1504C>T	XP_016864675.1:p.Gln502Ter
XM_017009187.1:c.6862C>T	XP_016864676.1:p.Gln2288Ter
XM_017009188.1:c.841C>T	XP_016864677.1:p.Gln281Ter
XM_024454388.1:c.5767C>T	XP_024310156.1:p.Gln1923Ter
XM_024454389.1:c.5356C>T	XP_024310157.1:p.Gln1786Ter
XR_001742034.1:n.6879C>T
XR_001742035.1:n.6879C>T
XR_925598.1:n.6961C>T