Canonical Allele Identifier: CA359191859

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753541C>T (hg19) ; chr5:g.13753432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753432C>T , CM000667.2:g.13753432C>T	GRCh38
NC_000005.9:g.13753541C>T , CM000667.1:g.13753541C>T	GRCh37
NC_000005.8:g.13806541C>T	NCBI36
NG_013081.1:g.196049G>A
NG_013081.2:g.196049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10673G>A MANE Select	ENSP00000265104.4:p.Gly3558Glu
ENST00000681290.1:c.10628G>A	ENSP00000505288.1:p.Gly3543Glu
ENST00000265104.4:c.10673G>A	ENSP00000265104.4:p.Gly3558Glu
NM_001369.2:c.10673G>A	NP_001360.1:p.Gly3558Glu
XM_005248262.2:c.10628G>A	XP_005248319.1:p.Gly3543Glu
XM_005248262.3:c.10781G>A	XP_005248319.2:p.Gly3594Glu
XM_017009177.1:c.10781G>A	XP_016864666.1:p.Gly3594Glu
XM_017009178.1:c.9686G>A	XP_016864667.1:p.Gly3229Glu
XM_017009179.2:c.9686G>A	XP_016864668.1:p.Gly3229Glu
XM_017009180.1:c.10781G>A	XP_016864669.1:p.Gly3594Glu
XM_017009181.1:c.10781G>A	XP_016864670.1:p.Gly3594Glu
XM_017009182.1:c.10781G>A	XP_016864671.1:p.Gly3594Glu
XM_017009185.1:c.5870G>A	XP_016864674.1:p.Gly1957Glu
XM_017009186.1:c.5423G>A	XP_016864675.1:p.Gly1808Glu
XM_017009188.1:c.4760G>A	XP_016864677.1:p.Gly1587Glu
XM_024454388.1:c.9686G>A	XP_024310156.1:p.Gly3229Glu
XM_024454389.1:c.9275G>A	XP_024310157.1:p.Gly3092Glu
NM_001369.3:c.10673G>A MANE Select	NP_001360.1:p.Gly3558Glu