Canonical Allele Identifier: CA359188620

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692162A>T (hg19) ; chr5:g.13692053A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692053A>T , CM000667.2:g.13692053A>T	GRCh38
NC_000005.9:g.13692162A>T , CM000667.1:g.13692162A>T	GRCh37
NC_000005.8:g.13745162A>T	NCBI36
NG_013081.1:g.257428T>A
NG_013081.2:g.257428T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1139T>A
ENST00000265104.5:c.13806T>A MANE Select	ENSP00000265104.4:p.Asp4602Glu
ENST00000681290.1:c.13761T>A	ENSP00000505288.1:p.Asp4587Glu
ENST00000265104.4:c.13806T>A	ENSP00000265104.4:p.Asp4602Glu
NM_001369.2:c.13806T>A	NP_001360.1:p.Asp4602Glu
XM_005248262.2:c.13761T>A	XP_005248319.1:p.Asp4587Glu
XM_005248262.3:c.13914T>A	XP_005248319.2:p.Asp4638Glu
XM_017009177.1:c.13494T>A	XP_016864666.1:p.Asp4498Glu
XM_017009178.1:c.12819T>A	XP_016864667.1:p.Asp4273Glu
XM_017009179.2:c.12819T>A	XP_016864668.1:p.Asp4273Glu
XM_017009185.1:c.9003T>A	XP_016864674.1:p.Asp3001Glu
XM_017009186.1:c.8556T>A	XP_016864675.1:p.Asp2852Glu
XM_017009188.1:c.7893T>A	XP_016864677.1:p.Asp2631Glu
XM_024454388.1:c.12819T>A	XP_024310156.1:p.Asp4273Glu
XM_024454389.1:c.12408T>A	XP_024310157.1:p.Asp4136Glu
NM_001369.3:c.13806T>A MANE Select	NP_001360.1:p.Asp4602Glu