Canonical Allele Identifier: CA3202412

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768979T>G , CM000667.2:g.13768979T>G	GRCh38
NC_000005.9:g.13769088T>G , CM000667.1:g.13769088T>G	GRCh37
NC_000005.8:g.13822088T>G	NCBI36
NG_013081.1:g.180502A>C
NG_013081.2:g.180502A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9878A>C MANE Select	NP_001360.1:p.Glu3293Ala
ENST00000265104.5:c.9878A>C MANE Select	ENSP00000265104.4:p.Glu3293Ala
NM_001369.2:c.9878A>C	NP_001360.1:p.Glu3293Ala
ENST00000265104.4:c.9878A>C	ENSP00000265104.4:p.Glu3293Ala
ENST00000504001.3:n.590A>C
ENST00000681290.1:c.9833A>C	ENSP00000505288.1:p.Glu3278Ala
XM_005248262.2:c.9833A>C	XP_005248319.1:p.Glu3278Ala
XM_005248262.3:c.9986A>C	XP_005248319.2:p.Glu3329Ala
XM_017009177.1:c.9986A>C	XP_016864666.1:p.Glu3329Ala
XM_017009178.1:c.8891A>C	XP_016864667.1:p.Glu2964Ala
XM_017009179.2:c.8891A>C	XP_016864668.1:p.Glu2964Ala
XM_017009180.1:c.9986A>C	XP_016864669.1:p.Glu3329Ala
XM_017009181.1:c.9986A>C	XP_016864670.1:p.Glu3329Ala
XM_017009182.1:c.9986A>C	XP_016864671.1:p.Glu3329Ala
XM_017009185.1:c.5075A>C	XP_016864674.1:p.Glu1692Ala
XM_017009186.1:c.4628A>C	XP_016864675.1:p.Glu1543Ala
XM_017009188.1:c.3965A>C	XP_016864677.1:p.Glu1322Ala
XM_024454388.1:c.8891A>C	XP_024310156.1:p.Glu2964Ala
XM_024454389.1:c.8480A>C	XP_024310157.1:p.Glu2827Ala