Canonical Allele Identifier: CA3201416

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708232G>C , CM000667.2:g.13708232G>C	GRCh38
NC_000005.9:g.13708341G>C , CM000667.1:g.13708341G>C	GRCh37
NC_000005.8:g.13761341G>C	NCBI36
NG_013081.1:g.241249C>G
NG_013081.2:g.241249C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13229C>G MANE Select	NP_001360.1:p.Thr4410Ser
ENST00000265104.5:c.13229C>G MANE Select	ENSP00000265104.4:p.Thr4410Ser
NM_001369.2:c.13229C>G	NP_001360.1:p.Thr4410Ser
ENST00000265104.4:c.13229C>G	ENSP00000265104.4:p.Thr4410Ser
ENST00000681290.1:c.13184C>G	ENSP00000505288.1:p.Thr4395Ser
ENST00000683611.1:n.562C>G
XM_005248262.2:c.13184C>G	XP_005248319.1:p.Thr4395Ser
XM_005248262.3:c.13337C>G	XP_005248319.2:p.Thr4446Ser
XM_017009177.1:c.12917C>G	XP_016864666.1:p.Thr4306Ser
XM_017009178.1:c.12242C>G	XP_016864667.1:p.Thr4081Ser
XM_017009179.2:c.12242C>G	XP_016864668.1:p.Thr4081Ser
XM_017009185.1:c.8426C>G	XP_016864674.1:p.Thr2809Ser
XM_017009186.1:c.7979C>G	XP_016864675.1:p.Thr2660Ser
XM_017009188.1:c.7316C>G	XP_016864677.1:p.Thr2439Ser
XM_024454388.1:c.12242C>G	XP_024310156.1:p.Thr4081Ser
XM_024454389.1:c.11831C>G	XP_024310157.1:p.Thr3944Ser