Canonical Allele Identifier: CA359189625

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752136T>A , CM000667.2:g.13752136T>A	GRCh38
NC_000005.9:g.13752245T>A , CM000667.1:g.13752245T>A	GRCh37
NC_000005.8:g.13805245T>A	NCBI36
NG_013081.1:g.197345A>T
NG_013081.2:g.197345A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11026A>T MANE Select	NP_001360.1:p.Lys3676Ter
ENST00000265104.5:c.11026A>T MANE Select	ENSP00000265104.4:p.Lys3676Ter
NM_001369.2:c.11026A>T	NP_001360.1:p.Lys3676Ter
ENST00000265104.4:c.11026A>T	ENSP00000265104.4:p.Lys3676Ter
ENST00000681290.1:c.10981A>T	ENSP00000505288.1:p.Lys3661Ter
XM_005248262.2:c.10981A>T	XP_005248319.1:p.Lys3661Ter
XM_005248262.3:c.11134A>T	XP_005248319.2:p.Lys3712Ter
XM_017009177.1:c.11134A>T	XP_016864666.1:p.Lys3712Ter
XM_017009178.1:c.10039A>T	XP_016864667.1:p.Lys3347Ter
XM_017009179.2:c.10039A>T	XP_016864668.1:p.Lys3347Ter
XM_017009180.1:c.11134A>T	XP_016864669.1:p.Lys3712Ter
XM_017009181.1:c.11134A>T	XP_016864670.1:p.Lys3712Ter
XM_017009182.1:c.11134A>T	XP_016864671.1:p.Lys3712Ter
XM_017009185.1:c.6223A>T	XP_016864674.1:p.Lys2075Ter
XM_017009186.1:c.5776A>T	XP_016864675.1:p.Lys1926Ter
XM_017009188.1:c.5113A>T	XP_016864677.1:p.Lys1705Ter
XM_024454388.1:c.10039A>T	XP_024310156.1:p.Lys3347Ter
XM_024454389.1:c.9628A>T	XP_024310157.1:p.Lys3210Ter