Canonical Allele Identifier: CA359209721

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776790T>A (hg19) ; chr5:g.13776681T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776681T>A , CM000667.2:g.13776681T>A	GRCh38
NC_000005.9:g.13776790T>A , CM000667.1:g.13776790T>A	GRCh37
NC_000005.8:g.13829790T>A	NCBI36
NG_013081.1:g.172800A>T
NG_013081.2:g.172800A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9131A>T MANE Select	ENSP00000265104.4:p.Glu3044Val
ENST00000681290.1:c.9086A>T	ENSP00000505288.1:p.Glu3029Val
ENST00000265104.4:c.9131A>T	ENSP00000265104.4:p.Glu3044Val
NM_001369.2:c.9131A>T	NP_001360.1:p.Glu3044Val
XM_005248262.2:c.9086A>T	XP_005248319.1:p.Glu3029Val
XM_011513990.1:c.*18A>T	XP_011512292.1:n.*18A>T
XR_925598.1:n.9202A>T
XM_005248262.3:c.9239A>T	XP_005248319.2:p.Glu3080Val
XM_017009177.1:c.9239A>T	XP_016864666.1:p.Glu3080Val
XM_017009178.1:c.8144A>T	XP_016864667.1:p.Glu2715Val
XM_017009179.2:c.8144A>T	XP_016864668.1:p.Glu2715Val
XM_017009180.1:c.9239A>T	XP_016864669.1:p.Glu3080Val
XM_017009181.1:c.9239A>T	XP_016864670.1:p.Glu3080Val
XM_017009182.1:c.9239A>T	XP_016864671.1:p.Glu3080Val
XM_017009183.1:c.9239A>T	XP_016864672.1:p.Glu3080Val
XM_017009184.1:c.*18A>T	XP_016864673.1:n.*18A>T
XM_017009185.1:c.4328A>T	XP_016864674.1:p.Glu1443Val
XM_017009186.1:c.3881A>T	XP_016864675.1:p.Glu1294Val
XM_017009188.1:c.3218A>T	XP_016864677.1:p.Glu1073Val
XM_024454388.1:c.8144A>T	XP_024310156.1:p.Glu2715Val
XM_024454389.1:c.7733A>T	XP_024310157.1:p.Glu2578Val
XR_001742034.1:n.9125A>T
XR_001742035.1:n.9120A>T
NM_001369.3:c.9131A>T MANE Select	NP_001360.1:p.Glu3044Val