Canonical Allele Identifier: CA359202985

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769542T>A , CM000667.2:g.13769542T>A	GRCh38
NC_000005.9:g.13769651T>A , CM000667.1:g.13769651T>A	GRCh37
NC_000005.8:g.13822651T>A	NCBI36
NG_013081.1:g.179939A>T
NG_013081.2:g.179939A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9679A>T MANE Select	NP_001360.1:p.Lys3227Ter
ENST00000265104.5:c.9679A>T MANE Select	ENSP00000265104.4:p.Lys3227Ter
NM_001369.2:c.9679A>T	NP_001360.1:p.Lys3227Ter
ENST00000265104.4:c.9679A>T	ENSP00000265104.4:p.Lys3227Ter
ENST00000504001.3:n.391A>T
ENST00000681290.1:c.9634A>T	ENSP00000505288.1:p.Lys3212Ter
XM_005248262.2:c.9634A>T	XP_005248319.1:p.Lys3212Ter
XM_005248262.3:c.9787A>T	XP_005248319.2:p.Lys3263Ter
XM_017009177.1:c.9787A>T	XP_016864666.1:p.Lys3263Ter
XM_017009178.1:c.8692A>T	XP_016864667.1:p.Lys2898Ter
XM_017009179.2:c.8692A>T	XP_016864668.1:p.Lys2898Ter
XM_017009180.1:c.9787A>T	XP_016864669.1:p.Lys3263Ter
XM_017009181.1:c.9787A>T	XP_016864670.1:p.Lys3263Ter
XM_017009182.1:c.9787A>T	XP_016864671.1:p.Lys3263Ter
XM_017009185.1:c.4876A>T	XP_016864674.1:p.Lys1626Ter
XM_017009186.1:c.4429A>T	XP_016864675.1:p.Lys1477Ter
XM_017009188.1:c.3766A>T	XP_016864677.1:p.Lys1256Ter
XM_024454388.1:c.8692A>T	XP_024310156.1:p.Lys2898Ter
XM_024454389.1:c.8281A>T	XP_024310157.1:p.Lys2761Ter