Canonical Allele Identifier: CA359224832

Gene: DNAH5

Linked Data

• dbSNP Id: rs1747329124
• MyVariant Identifiers: chr5:g.13735983C>A (hg19) ; chr5:g.13735874C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735874C>A , CM000667.2:g.13735874C>A	GRCh38
NC_000005.9:g.13735983C>A , CM000667.1:g.13735983C>A	GRCh37
NC_000005.8:g.13788983C>A	NCBI36
NG_013081.1:g.213607G>T
NG_013081.2:g.213607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11514G>T MANE Select	ENSP00000265104.4:p.Glu3838Asp
ENST00000681290.1:c.11469G>T	ENSP00000505288.1:p.Glu3823Asp
ENST00000265104.4:c.11514G>T	ENSP00000265104.4:p.Glu3838Asp
NM_001369.2:c.11514G>T	NP_001360.1:p.Glu3838Asp
XM_005248262.2:c.11469G>T	XP_005248319.1:p.Glu3823Asp
XM_005248262.3:c.11622G>T	XP_005248319.2:p.Glu3874Asp
XM_017009177.1:c.11622G>T	XP_016864666.1:p.Glu3874Asp
XM_017009178.1:c.10527G>T	XP_016864667.1:p.Glu3509Asp
XM_017009179.2:c.10527G>T	XP_016864668.1:p.Glu3509Asp
XM_017009180.1:c.11622G>T	XP_016864669.1:p.Glu3874Asp
XM_017009181.1:c.11622G>T	XP_016864670.1:p.Glu3874Asp
XM_017009182.1:c.11378G>T	XP_016864671.1:p.Arg3793Ile
XM_017009185.1:c.6711G>T	XP_016864674.1:p.Glu2237Asp
XM_017009186.1:c.6264G>T	XP_016864675.1:p.Glu2088Asp
XM_017009188.1:c.5601G>T	XP_016864677.1:p.Glu1867Asp
XM_024454388.1:c.10527G>T	XP_024310156.1:p.Glu3509Asp
XM_024454389.1:c.10116G>T	XP_024310157.1:p.Glu3372Asp
NM_001369.3:c.11514G>T MANE Select	NP_001360.1:p.Glu3838Asp