Canonical Allele Identifier: CA3204018

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13865699T>G , CM000667.2:g.13865699T>G	GRCh38
NC_000005.9:g.13865808T>G , CM000667.1:g.13865808T>G	GRCh37
NC_000005.8:g.13918808T>G	NCBI36
NG_013081.1:g.83782A>C
NG_013081.2:g.83782A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.4324A>C MANE Select	NP_001360.1:p.Ile1442Leu
ENST00000265104.5:c.4324A>C MANE Select	ENSP00000265104.4:p.Ile1442Leu
NM_001369.2:c.4324A>C	NP_001360.1:p.Ile1442Leu
ENST00000265104.4:c.4324A>C	ENSP00000265104.4:p.Ile1442Leu
ENST00000681290.1:c.4279A>C	ENSP00000505288.1:p.Ile1427Leu
XM_005248262.2:c.4279A>C	XP_005248319.1:p.Ile1427Leu
XM_005248262.3:c.4432A>C	XP_005248319.2:p.Ile1478Leu
XM_011513990.1:c.4324A>C	XP_011512292.1:p.Ile1442Leu
XM_017009177.1:c.4432A>C	XP_016864666.1:p.Ile1478Leu
XM_017009178.1:c.3337A>C	XP_016864667.1:p.Ile1113Leu
XM_017009179.2:c.3337A>C	XP_016864668.1:p.Ile1113Leu
XM_017009180.1:c.4432A>C	XP_016864669.1:p.Ile1478Leu
XM_017009181.1:c.4432A>C	XP_016864670.1:p.Ile1478Leu
XM_017009182.1:c.4432A>C	XP_016864671.1:p.Ile1478Leu
XM_017009183.1:c.4432A>C	XP_016864672.1:p.Ile1478Leu
XM_017009184.1:c.4432A>C	XP_016864673.1:p.Ile1478Leu
XM_017009187.1:c.4432A>C	XP_016864676.1:p.Ile1478Leu
XM_024454388.1:c.3337A>C	XP_024310156.1:p.Ile1113Leu
XM_024454389.1:c.2926A>C	XP_024310157.1:p.Ile976Leu
XR_001742034.1:n.4449A>C
XR_001742035.1:n.4449A>C
XR_925598.1:n.4531A>C