Canonical Allele Identifier: CA359211453

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13777341G>C , CM000667.2:g.13777341G>C	GRCh38
NC_000005.9:g.13777450G>C , CM000667.1:g.13777450G>C	GRCh37
NC_000005.8:g.13830450G>C	NCBI36
NG_013081.1:g.172140C>G
NG_013081.2:g.172140C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8966C>G MANE Select	NP_001360.1:p.Ser2989Ter
ENST00000265104.5:c.8966C>G MANE Select	ENSP00000265104.4:p.Ser2989Ter
NM_001369.2:c.8966C>G	NP_001360.1:p.Ser2989Ter
ENST00000265104.4:c.8966C>G	ENSP00000265104.4:p.Ser2989Ter
ENST00000681290.1:c.8921C>G	ENSP00000505288.1:p.Ser2974Ter
XM_005248262.2:c.8921C>G	XP_005248319.1:p.Ser2974Ter
XM_005248262.3:c.9074C>G	XP_005248319.2:p.Ser3025Ter
XM_011513990.1:c.8966C>G	XP_011512292.1:p.Ser2989Ter
XM_017009177.1:c.9074C>G	XP_016864666.1:p.Ser3025Ter
XM_017009178.1:c.7979C>G	XP_016864667.1:p.Ser2660Ter
XM_017009179.2:c.7979C>G	XP_016864668.1:p.Ser2660Ter
XM_017009180.1:c.9074C>G	XP_016864669.1:p.Ser3025Ter
XM_017009181.1:c.9074C>G	XP_016864670.1:p.Ser3025Ter
XM_017009182.1:c.9074C>G	XP_016864671.1:p.Ser3025Ter
XM_017009183.1:c.9074C>G	XP_016864672.1:p.Ser3025Ter
XM_017009184.1:c.9074C>G	XP_016864673.1:p.Ser3025Ter
XM_017009185.1:c.4163C>G	XP_016864674.1:p.Ser1388Ter
XM_017009186.1:c.3716C>G	XP_016864675.1:p.Ser1239Ter
XM_017009188.1:c.3053C>G	XP_016864677.1:p.Ser1018Ter
XM_024454388.1:c.7979C>G	XP_024310156.1:p.Ser2660Ter
XM_024454389.1:c.7568C>G	XP_024310157.1:p.Ser2523Ter
XR_001742034.1:n.8960C>G
XR_001742035.1:n.8960C>G
XR_925598.1:n.9042C>G