Canonical Allele Identifier: CA359201339

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768980C>A , CM000667.2:g.13768980C>A	GRCh38
NC_000005.9:g.13769089C>A , CM000667.1:g.13769089C>A	GRCh37
NC_000005.8:g.13822089C>A	NCBI36
NG_013081.1:g.180501G>T
NG_013081.2:g.180501G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9877G>T MANE Select	NP_001360.1:p.Glu3293Ter
ENST00000265104.5:c.9877G>T MANE Select	ENSP00000265104.4:p.Glu3293Ter
NM_001369.2:c.9877G>T	NP_001360.1:p.Glu3293Ter
ENST00000265104.4:c.9877G>T	ENSP00000265104.4:p.Glu3293Ter
ENST00000504001.3:n.589G>T
ENST00000681290.1:c.9832G>T	ENSP00000505288.1:p.Glu3278Ter
XM_005248262.2:c.9832G>T	XP_005248319.1:p.Glu3278Ter
XM_005248262.3:c.9985G>T	XP_005248319.2:p.Glu3329Ter
XM_017009177.1:c.9985G>T	XP_016864666.1:p.Glu3329Ter
XM_017009178.1:c.8890G>T	XP_016864667.1:p.Glu2964Ter
XM_017009179.2:c.8890G>T	XP_016864668.1:p.Glu2964Ter
XM_017009180.1:c.9985G>T	XP_016864669.1:p.Glu3329Ter
XM_017009181.1:c.9985G>T	XP_016864670.1:p.Glu3329Ter
XM_017009182.1:c.9985G>T	XP_016864671.1:p.Glu3329Ter
XM_017009185.1:c.5074G>T	XP_016864674.1:p.Glu1692Ter
XM_017009186.1:c.4627G>T	XP_016864675.1:p.Glu1543Ter
XM_017009188.1:c.3964G>T	XP_016864677.1:p.Glu1322Ter
XM_024454388.1:c.8890G>T	XP_024310156.1:p.Glu2964Ter
XM_024454389.1:c.8479G>T	XP_024310157.1:p.Glu2827Ter