Canonical Allele Identifier: CA359198372

Gene: DNAH5

Linked Data

• COSMIC: COSM1619503
• MyVariant Identifiers: chr5:g.13708437T>A (hg19) ; chr5:g.13708328T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708328T>A , CM000667.2:g.13708328T>A	GRCh38
NC_000005.9:g.13708437T>A , CM000667.1:g.13708437T>A	GRCh37
NC_000005.8:g.13761437T>A	NCBI36
NG_013081.1:g.241153A>T
NG_013081.2:g.241153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.466A>T
ENST00000265104.5:c.13133A>T MANE Select	ENSP00000265104.4:p.Glu4378Val
ENST00000681290.1:c.13088A>T	ENSP00000505288.1:p.Glu4363Val
ENST00000265104.4:c.13133A>T	ENSP00000265104.4:p.Glu4378Val
NM_001369.2:c.13133A>T	NP_001360.1:p.Glu4378Val
XM_005248262.2:c.13088A>T	XP_005248319.1:p.Glu4363Val
XM_005248262.3:c.13241A>T	XP_005248319.2:p.Glu4414Val
XM_017009177.1:c.12821A>T	XP_016864666.1:p.Glu4274Val
XM_017009178.1:c.12146A>T	XP_016864667.1:p.Glu4049Val
XM_017009179.2:c.12146A>T	XP_016864668.1:p.Glu4049Val
XM_017009185.1:c.8330A>T	XP_016864674.1:p.Glu2777Val
XM_017009186.1:c.7883A>T	XP_016864675.1:p.Glu2628Val
XM_017009188.1:c.7220A>T	XP_016864677.1:p.Glu2407Val
XM_024454388.1:c.12146A>T	XP_024310156.1:p.Glu4049Val
XM_024454389.1:c.11735A>T	XP_024310157.1:p.Glu3912Val
NM_001369.3:c.13133A>T MANE Select	NP_001360.1:p.Glu4378Val