Canonical Allele Identifier: CA3202752

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13786253G>C , CM000667.2:g.13786253G>C	GRCh38
NC_000005.9:g.13786362G>C , CM000667.1:g.13786362G>C	GRCh37
NC_000005.8:g.13839362G>C	NCBI36
NG_013081.1:g.163228C>G
NG_013081.2:g.163228C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8746C>G MANE Select	NP_001360.1:p.Leu2916Val
ENST00000265104.5:c.8746C>G MANE Select	ENSP00000265104.4:p.Leu2916Val
NM_001369.2:c.8746C>G	NP_001360.1:p.Leu2916Val
ENST00000265104.4:c.8746C>G	ENSP00000265104.4:p.Leu2916Val
ENST00000681290.1:c.8701C>G	ENSP00000505288.1:p.Leu2901Val
XM_005248262.2:c.8701C>G	XP_005248319.1:p.Leu2901Val
XM_005248262.3:c.8854C>G	XP_005248319.2:p.Leu2952Val
XM_011513990.1:c.8746C>G	XP_011512292.1:p.Leu2916Val
XM_017009177.1:c.8854C>G	XP_016864666.1:p.Leu2952Val
XM_017009178.1:c.7759C>G	XP_016864667.1:p.Leu2587Val
XM_017009179.2:c.7759C>G	XP_016864668.1:p.Leu2587Val
XM_017009180.1:c.8854C>G	XP_016864669.1:p.Leu2952Val
XM_017009181.1:c.8854C>G	XP_016864670.1:p.Leu2952Val
XM_017009182.1:c.8854C>G	XP_016864671.1:p.Leu2952Val
XM_017009183.1:c.8854C>G	XP_016864672.1:p.Leu2952Val
XM_017009184.1:c.8854C>G	XP_016864673.1:p.Leu2952Val
XM_017009185.1:c.3943C>G	XP_016864674.1:p.Leu1315Val
XM_017009186.1:c.3496C>G	XP_016864675.1:p.Leu1166Val
XM_017009188.1:c.2833C>G	XP_016864677.1:p.Leu945Val
XM_024454388.1:c.7759C>G	XP_024310156.1:p.Leu2587Val
XM_024454389.1:c.7348C>G	XP_024310157.1:p.Leu2450Val
XR_001742034.1:n.8871C>G
XR_001742035.1:n.8871C>G
XR_925598.1:n.8953C>G