Canonical Allele Identifier: CA359188595

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692149G>C (hg19) ; chr5:g.13692040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692040G>C , CM000667.2:g.13692040G>C	GRCh38
NC_000005.9:g.13692149G>C , CM000667.1:g.13692149G>C	GRCh37
NC_000005.8:g.13745149G>C	NCBI36
NG_013081.1:g.257441C>G
NG_013081.2:g.257441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1152C>G
ENST00000265104.5:c.13819C>G MANE Select	ENSP00000265104.4:p.Gln4607Glu
ENST00000681290.1:c.13774C>G	ENSP00000505288.1:p.Gln4592Glu
ENST00000265104.4:c.13819C>G	ENSP00000265104.4:p.Gln4607Glu
NM_001369.2:c.13819C>G	NP_001360.1:p.Gln4607Glu
XM_005248262.2:c.13774C>G	XP_005248319.1:p.Gln4592Glu
XM_005248262.3:c.13927C>G	XP_005248319.2:p.Gln4643Glu
XM_017009177.1:c.13507C>G	XP_016864666.1:p.Gln4503Glu
XM_017009178.1:c.12832C>G	XP_016864667.1:p.Gln4278Glu
XM_017009179.2:c.12832C>G	XP_016864668.1:p.Gln4278Glu
XM_017009185.1:c.9016C>G	XP_016864674.1:p.Gln3006Glu
XM_017009186.1:c.8569C>G	XP_016864675.1:p.Gln2857Glu
XM_017009188.1:c.7906C>G	XP_016864677.1:p.Gln2636Glu
XM_024454388.1:c.12832C>G	XP_024310156.1:p.Gln4278Glu
XM_024454389.1:c.12421C>G	XP_024310157.1:p.Gln4141Glu
NM_001369.3:c.13819C>G MANE Select	NP_001360.1:p.Gln4607Glu