Canonical Allele Identifier: CA359209657

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776781T>C (hg19) ; chr5:g.13776672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776672T>C , CM000667.2:g.13776672T>C	GRCh38
NC_000005.9:g.13776781T>C , CM000667.1:g.13776781T>C	GRCh37
NC_000005.8:g.13829781T>C	NCBI36
NG_013081.1:g.172809A>G
NG_013081.2:g.172809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9140A>G MANE Select	ENSP00000265104.4:p.Glu3047Gly
ENST00000681290.1:c.9095A>G	ENSP00000505288.1:p.Glu3032Gly
ENST00000265104.4:c.9140A>G	ENSP00000265104.4:p.Glu3047Gly
NM_001369.2:c.9140A>G	NP_001360.1:p.Glu3047Gly
XM_005248262.2:c.9095A>G	XP_005248319.1:p.Glu3032Gly
XM_011513990.1:c.*27A>G	XP_011512292.1:n.*27A>G
XR_925598.1:n.9211A>G
XM_005248262.3:c.9248A>G	XP_005248319.2:p.Glu3083Gly
XM_017009177.1:c.9248A>G	XP_016864666.1:p.Glu3083Gly
XM_017009178.1:c.8153A>G	XP_016864667.1:p.Glu2718Gly
XM_017009179.2:c.8153A>G	XP_016864668.1:p.Glu2718Gly
XM_017009180.1:c.9248A>G	XP_016864669.1:p.Glu3083Gly
XM_017009181.1:c.9248A>G	XP_016864670.1:p.Glu3083Gly
XM_017009182.1:c.9248A>G	XP_016864671.1:p.Glu3083Gly
XM_017009183.1:c.9248A>G	XP_016864672.1:p.Glu3083Gly
XM_017009184.1:c.*27A>G	XP_016864673.1:n.*27A>G
XM_017009185.1:c.4337A>G	XP_016864674.1:p.Glu1446Gly
XM_017009186.1:c.3890A>G	XP_016864675.1:p.Glu1297Gly
XM_017009188.1:c.3227A>G	XP_016864677.1:p.Glu1076Gly
XM_024454388.1:c.8153A>G	XP_024310156.1:p.Glu2718Gly
XM_024454389.1:c.7742A>G	XP_024310157.1:p.Glu2581Gly
XR_001742034.1:n.9134A>G
XR_001742035.1:n.9129A>G
NM_001369.3:c.9140A>G MANE Select	NP_001360.1:p.Glu3047Gly