Canonical Allele Identifier: CA359214286

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844946G>C , CM000667.2:g.13844946G>C	GRCh38
NC_000005.9:g.13845055G>C , CM000667.1:g.13845055G>C	GRCh37
NC_000005.8:g.13898055G>C	NCBI36
NG_013081.1:g.104535C>G
NG_013081.2:g.104535C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.5162C>G MANE Select	NP_001360.1:p.Ser1721Ter
ENST00000265104.5:c.5162C>G MANE Select	ENSP00000265104.4:p.Ser1721Ter
NM_001369.2:c.5162C>G	NP_001360.1:p.Ser1721Ter
ENST00000265104.4:c.5162C>G	ENSP00000265104.4:p.Ser1721Ter
ENST00000681290.1:c.5117C>G	ENSP00000505288.1:p.Ser1706Ter
XM_005248262.2:c.5117C>G	XP_005248319.1:p.Ser1706Ter
XM_005248262.3:c.5270C>G	XP_005248319.2:p.Ser1757Ter
XM_011513990.1:c.5162C>G	XP_011512292.1:p.Ser1721Ter
XM_017009177.1:c.5270C>G	XP_016864666.1:p.Ser1757Ter
XM_017009178.1:c.4175C>G	XP_016864667.1:p.Ser1392Ter
XM_017009179.2:c.4175C>G	XP_016864668.1:p.Ser1392Ter
XM_017009180.1:c.5270C>G	XP_016864669.1:p.Ser1757Ter
XM_017009181.1:c.5270C>G	XP_016864670.1:p.Ser1757Ter
XM_017009182.1:c.5270C>G	XP_016864671.1:p.Ser1757Ter
XM_017009183.1:c.5270C>G	XP_016864672.1:p.Ser1757Ter
XM_017009184.1:c.5270C>G	XP_016864673.1:p.Ser1757Ter
XM_017009185.1:c.359C>G	XP_016864674.1:p.Ser120Ter
XM_017009186.1:c.22-3042C>G	XP_016864675.1:n.22-3042C>G
XM_017009187.1:c.5270C>G	XP_016864676.1:p.Ser1757Ter
XM_024454388.1:c.4175C>G	XP_024310156.1:p.Ser1392Ter
XM_024454389.1:c.3764C>G	XP_024310157.1:p.Ser1255Ter
XR_001742034.1:n.5287C>G
XR_001742035.1:n.5287C>G
XR_925598.1:n.5369C>G