Canonical Allele Identifier: CA2578269753

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752091A>G , CM000667.2:g.13752091A>G	GRCh38
NC_000005.9:g.13752200A>G , CM000667.1:g.13752200A>G	GRCh37
NC_000005.8:g.13805200A>G	NCBI36
NG_013081.1:g.197390T>C
NG_013081.2:g.197390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11028+43T>C MANE Select	ENSP00000265104.4:n.11028+43T>C
ENST00000681290.1:c.10983+43T>C	ENSP00000505288.1:n.10983+43T>C
ENST00000265104.4:c.11028+43T>C	ENSP00000265104.4:n.11028+43T>C
NM_001369.2:c.11028+43T>C	NP_001360.1:n.11028+43T>C
XM_005248262.2:c.10983+43T>C	XP_005248319.1:n.10983+43T>C
XM_005248262.3:c.11136+43T>C	XP_005248319.2:n.11136+43T>C
XM_017009177.1:c.11136+43T>C	XP_016864666.1:n.11136+43T>C
XM_017009178.1:c.10041+43T>C	XP_016864667.1:n.10041+43T>C
XM_017009179.2:c.10041+43T>C	XP_016864668.1:n.10041+43T>C
XM_017009180.1:c.11136+43T>C	XP_016864669.1:n.11136+43T>C
XM_017009181.1:c.11136+43T>C	XP_016864670.1:n.11136+43T>C
XM_017009182.1:c.11136+43T>C	XP_016864671.1:n.11136+43T>C
XM_017009185.1:c.6225+43T>C	XP_016864674.1:n.6225+43T>C
XM_017009186.1:c.5778+43T>C	XP_016864675.1:n.5778+43T>C
XM_017009188.1:c.5115+43T>C	XP_016864677.1:n.5115+43T>C
XM_024454388.1:c.10041+43T>C	XP_024310156.1:n.10041+43T>C
XM_024454389.1:c.9630+43T>C	XP_024310157.1:n.9630+43T>C
NM_001369.3:c.11028+43T>C MANE Select	NP_001360.1:n.11028+43T>C