Canonical Allele Identifier: CA359196750

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708293T>A (hg19) ; chr5:g.13708184T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708184T>A , CM000667.2:g.13708184T>A	GRCh38
NC_000005.9:g.13708293T>A , CM000667.1:g.13708293T>A	GRCh37
NC_000005.8:g.13761293T>A	NCBI36
NG_013081.1:g.241297A>T
NG_013081.2:g.241297A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.610A>T
ENST00000265104.5:c.13277A>T MANE Select	ENSP00000265104.4:p.Glu4426Val
ENST00000681290.1:c.13232A>T	ENSP00000505288.1:p.Glu4411Val
ENST00000265104.4:c.13277A>T	ENSP00000265104.4:p.Glu4426Val
NM_001369.2:c.13277A>T	NP_001360.1:p.Glu4426Val
XM_005248262.2:c.13232A>T	XP_005248319.1:p.Glu4411Val
XM_005248262.3:c.13385A>T	XP_005248319.2:p.Glu4462Val
XM_017009177.1:c.12965A>T	XP_016864666.1:p.Glu4322Val
XM_017009178.1:c.12290A>T	XP_016864667.1:p.Glu4097Val
XM_017009179.2:c.12290A>T	XP_016864668.1:p.Glu4097Val
XM_017009185.1:c.8474A>T	XP_016864674.1:p.Glu2825Val
XM_017009186.1:c.8027A>T	XP_016864675.1:p.Glu2676Val
XM_017009188.1:c.7364A>T	XP_016864677.1:p.Glu2455Val
XM_024454388.1:c.12290A>T	XP_024310156.1:p.Glu4097Val
XM_024454389.1:c.11879A>T	XP_024310157.1:p.Glu3960Val
NM_001369.3:c.13277A>T MANE Select	NP_001360.1:p.Glu4426Val