Canonical Allele Identifier: CA3204030

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13865754T>C , CM000667.2:g.13865754T>C	GRCh38
NC_000005.9:g.13865863T>C , CM000667.1:g.13865863T>C	GRCh37
NC_000005.8:g.13918863T>C	NCBI36
NG_013081.1:g.83727A>G
NG_013081.2:g.83727A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.4269A>G MANE Select	NP_001360.1:p.Ile1423Met
ENST00000265104.5:c.4269A>G MANE Select	ENSP00000265104.4:p.Ile1423Met
NM_001369.2:c.4269A>G	NP_001360.1:p.Ile1423Met
ENST00000265104.4:c.4269A>G	ENSP00000265104.4:p.Ile1423Met
ENST00000681290.1:c.4224A>G	ENSP00000505288.1:p.Ile1408Met
XM_005248262.2:c.4224A>G	XP_005248319.1:p.Ile1408Met
XM_005248262.3:c.4377A>G	XP_005248319.2:p.Ile1459Met
XM_011513990.1:c.4269A>G	XP_011512292.1:p.Ile1423Met
XM_017009177.1:c.4377A>G	XP_016864666.1:p.Ile1459Met
XM_017009178.1:c.3282A>G	XP_016864667.1:p.Ile1094Met
XM_017009179.2:c.3282A>G	XP_016864668.1:p.Ile1094Met
XM_017009180.1:c.4377A>G	XP_016864669.1:p.Ile1459Met
XM_017009181.1:c.4377A>G	XP_016864670.1:p.Ile1459Met
XM_017009182.1:c.4377A>G	XP_016864671.1:p.Ile1459Met
XM_017009183.1:c.4377A>G	XP_016864672.1:p.Ile1459Met
XM_017009184.1:c.4377A>G	XP_016864673.1:p.Ile1459Met
XM_017009187.1:c.4377A>G	XP_016864676.1:p.Ile1459Met
XM_024454388.1:c.3282A>G	XP_024310156.1:p.Ile1094Met
XM_024454389.1:c.2871A>G	XP_024310157.1:p.Ile957Met
XR_001742034.1:n.4394A>G
XR_001742035.1:n.4394A>G
XR_925598.1:n.4476A>G