Canonical Allele Identifier: CA359188593

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692148T>C (hg19) ; chr5:g.13692039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692039T>C , CM000667.2:g.13692039T>C	GRCh38
NC_000005.9:g.13692148T>C , CM000667.1:g.13692148T>C	GRCh37
NC_000005.8:g.13745148T>C	NCBI36
NG_013081.1:g.257442A>G
NG_013081.2:g.257442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1153A>G
ENST00000265104.5:c.13820A>G MANE Select	ENSP00000265104.4:p.Gln4607Arg
ENST00000681290.1:c.13775A>G	ENSP00000505288.1:p.Gln4592Arg
ENST00000265104.4:c.13820A>G	ENSP00000265104.4:p.Gln4607Arg
NM_001369.2:c.13820A>G	NP_001360.1:p.Gln4607Arg
XM_005248262.2:c.13775A>G	XP_005248319.1:p.Gln4592Arg
XM_005248262.3:c.13928A>G	XP_005248319.2:p.Gln4643Arg
XM_017009177.1:c.13508A>G	XP_016864666.1:p.Gln4503Arg
XM_017009178.1:c.12833A>G	XP_016864667.1:p.Gln4278Arg
XM_017009179.2:c.12833A>G	XP_016864668.1:p.Gln4278Arg
XM_017009185.1:c.9017A>G	XP_016864674.1:p.Gln3006Arg
XM_017009186.1:c.8570A>G	XP_016864675.1:p.Gln2857Arg
XM_017009188.1:c.7907A>G	XP_016864677.1:p.Gln2636Arg
XM_024454388.1:c.12833A>G	XP_024310156.1:p.Gln4278Arg
XM_024454389.1:c.12422A>G	XP_024310157.1:p.Gln4141Arg
NM_001369.3:c.13820A>G MANE Select	NP_001360.1:p.Gln4607Arg