Canonical Allele Identifier: CA3202596

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776609T>C , CM000667.2:g.13776609T>C	GRCh38
NC_000005.9:g.13776718T>C , CM000667.1:g.13776718T>C	GRCh37
NC_000005.8:g.13829718T>C	NCBI36
NG_013081.1:g.172872A>G
NG_013081.2:g.172872A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9203A>G MANE Select	NP_001360.1:p.Glu3068Gly
ENST00000265104.5:c.9203A>G MANE Select	ENSP00000265104.4:p.Glu3068Gly
NM_001369.2:c.9203A>G	NP_001360.1:p.Glu3068Gly
ENST00000265104.4:c.9203A>G	ENSP00000265104.4:p.Glu3068Gly
ENST00000681290.1:c.9158A>G	ENSP00000505288.1:p.Glu3053Gly
XM_005248262.2:c.9158A>G	XP_005248319.1:p.Glu3053Gly
XM_005248262.3:c.9311A>G	XP_005248319.2:p.Glu3104Gly
XM_017009177.1:c.9311A>G	XP_016864666.1:p.Glu3104Gly
XM_017009178.1:c.8216A>G	XP_016864667.1:p.Glu2739Gly
XM_017009179.2:c.8216A>G	XP_016864668.1:p.Glu2739Gly
XM_017009180.1:c.9311A>G	XP_016864669.1:p.Glu3104Gly
XM_017009181.1:c.9311A>G	XP_016864670.1:p.Glu3104Gly
XM_017009182.1:c.9311A>G	XP_016864671.1:p.Glu3104Gly
XM_017009183.1:c.9311A>G	XP_016864672.1:p.Glu3104Gly
XM_017009185.1:c.4400A>G	XP_016864674.1:p.Glu1467Gly
XM_017009186.1:c.3953A>G	XP_016864675.1:p.Glu1318Gly
XM_017009188.1:c.3290A>G	XP_016864677.1:p.Glu1097Gly
XM_024454388.1:c.8216A>G	XP_024310156.1:p.Glu2739Gly
XM_024454389.1:c.7805A>G	XP_024310157.1:p.Glu2602Gly