Canonical Allele Identifier: CA359228212

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13807657A>C , CM000667.2:g.13807657A>C	GRCh38
NC_000005.9:g.13807766A>C , CM000667.1:g.13807766A>C	GRCh37
NC_000005.8:g.13860766A>C	NCBI36
NG_013081.1:g.141824T>G
NG_013081.2:g.141824T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7821T>G MANE Select	NP_001360.1:p.Tyr2607Ter
ENST00000265104.5:c.7821T>G MANE Select	ENSP00000265104.4:p.Tyr2607Ter
NM_001369.2:c.7821T>G	NP_001360.1:p.Tyr2607Ter
ENST00000265104.4:c.7821T>G	ENSP00000265104.4:p.Tyr2607Ter
ENST00000681290.1:c.7776T>G	ENSP00000505288.1:p.Tyr2592Ter
XM_005248262.2:c.7776T>G	XP_005248319.1:p.Tyr2592Ter
XM_005248262.3:c.7929T>G	XP_005248319.2:p.Tyr2643Ter
XM_011513990.1:c.7821T>G	XP_011512292.1:p.Tyr2607Ter
XM_017009177.1:c.7929T>G	XP_016864666.1:p.Tyr2643Ter
XM_017009178.1:c.6834T>G	XP_016864667.1:p.Tyr2278Ter
XM_017009179.2:c.6834T>G	XP_016864668.1:p.Tyr2278Ter
XM_017009180.1:c.7929T>G	XP_016864669.1:p.Tyr2643Ter
XM_017009181.1:c.7929T>G	XP_016864670.1:p.Tyr2643Ter
XM_017009182.1:c.7929T>G	XP_016864671.1:p.Tyr2643Ter
XM_017009183.1:c.7929T>G	XP_016864672.1:p.Tyr2643Ter
XM_017009184.1:c.7929T>G	XP_016864673.1:p.Tyr2643Ter
XM_017009185.1:c.3018T>G	XP_016864674.1:p.Tyr1006Ter
XM_017009186.1:c.2571T>G	XP_016864675.1:p.Tyr857Ter
XM_017009187.1:c.7929T>G	XP_016864676.1:p.Tyr2643Ter
XM_017009188.1:c.1908T>G	XP_016864677.1:p.Tyr636Ter
XM_024454388.1:c.6834T>G	XP_024310156.1:p.Tyr2278Ter
XM_024454389.1:c.6423T>G	XP_024310157.1:p.Tyr2141Ter
XR_001742034.1:n.7946T>G
XR_001742035.1:n.7946T>G
XR_925598.1:n.8028T>G