Canonical Allele Identifier: CA359223197

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735332T>A (hg19) ; chr5:g.13735223T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735223T>A , CM000667.2:g.13735223T>A	GRCh38
NC_000005.9:g.13735332T>A , CM000667.1:g.13735332T>A	GRCh37
NC_000005.8:g.13788332T>A	NCBI36
NG_013081.1:g.214258A>T
NG_013081.2:g.214258A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11669A>T MANE Select	ENSP00000265104.4:p.Glu3890Val
ENST00000681290.1:c.11624A>T	ENSP00000505288.1:p.Glu3875Val
ENST00000265104.4:c.11669A>T	ENSP00000265104.4:p.Glu3890Val
NM_001369.2:c.11669A>T	NP_001360.1:p.Glu3890Val
XM_005248262.2:c.11624A>T	XP_005248319.1:p.Glu3875Val
XM_005248262.3:c.11777A>T	XP_005248319.2:p.Glu3926Val
XM_017009177.1:c.11777A>T	XP_016864666.1:p.Glu3926Val
XM_017009178.1:c.10682A>T	XP_016864667.1:p.Glu3561Val
XM_017009179.2:c.10682A>T	XP_016864668.1:p.Glu3561Val
XM_017009180.1:c.11777A>T	XP_016864669.1:p.Glu3926Val
XM_017009181.1:c.11777A>T	XP_016864670.1:p.Glu3926Val
XM_017009185.1:c.6866A>T	XP_016864674.1:p.Glu2289Val
XM_017009186.1:c.6419A>T	XP_016864675.1:p.Glu2140Val
XM_017009188.1:c.5756A>T	XP_016864677.1:p.Glu1919Val
XM_024454388.1:c.10682A>T	XP_024310156.1:p.Glu3561Val
XM_024454389.1:c.10271A>T	XP_024310157.1:p.Glu3424Val
NM_001369.3:c.11669A>T MANE Select	NP_001360.1:p.Glu3890Val