Canonical Allele Identifier: CA359225716

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13737251C>A , CM000667.2:g.13737251C>A	GRCh38
NC_000005.9:g.13737360C>A , CM000667.1:g.13737360C>A	GRCh37
NC_000005.8:g.13790360C>A	NCBI36
NG_013081.1:g.212230G>T
NG_013081.2:g.212230G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11455+1G>T MANE Select	NP_001360.1:n.11455+1G>T
ENST00000265104.5:c.11455+1G>T MANE Select	ENSP00000265104.4:n.11455+1G>T
NM_001369.2:c.11455+1G>T	NP_001360.1:n.11455+1G>T
ENST00000265104.4:c.11455+1G>T	ENSP00000265104.4:n.11455+1G>T
ENST00000681290.1:c.11410+1G>T	ENSP00000505288.1:n.11410+1G>T
XM_005248262.2:c.11410+1G>T	XP_005248319.1:n.11410+1G>T
XM_005248262.3:c.11563+1G>T	XP_005248319.2:n.11563+1G>T
XM_017009177.1:c.11563+1G>T	XP_016864666.1:n.11563+1G>T
XM_017009178.1:c.10468+1G>T	XP_016864667.1:n.10468+1G>T
XM_017009179.2:c.10468+1G>T	XP_016864668.1:n.10468+1G>T
XM_017009180.1:c.11563+1G>T	XP_016864669.1:n.11563+1G>T
XM_017009181.1:c.11563+1G>T	XP_016864670.1:n.11563+1G>T
XM_017009182.1:c.11320-1319G>T	XP_016864671.1:n.11320-1319G>T
XM_017009185.1:c.6652+1G>T	XP_016864674.1:n.6652+1G>T
XM_017009186.1:c.6205+1G>T	XP_016864675.1:n.6205+1G>T
XM_017009188.1:c.5542+1G>T	XP_016864677.1:n.5542+1G>T
XM_024454388.1:c.10468+1G>T	XP_024310156.1:n.10468+1G>T
XM_024454389.1:c.10057+1G>T	XP_024310157.1:n.10057+1G>T