Canonical Allele Identifier: CA443260373

Gene: DNAH5

Linked Data

• COSMIC: COSM5684891
• MyVariant Identifiers: chr5:g.13736033G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735924G>T , CM000667.2:g.13735924G>T	GRCh38
NC_000005.9:g.13736033G>T , CM000667.1:g.13736033G>T	GRCh37
NC_000005.8:g.13789033G>T	NCBI36
NG_013081.1:g.213557C>A
NG_013081.2:g.213557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11464C>A MANE Select	ENSP00000265104.4:p.Arg3822=
ENST00000681290.1:c.11419C>A	ENSP00000505288.1:p.Arg3807=
ENST00000265104.4:c.11464C>A	ENSP00000265104.4:p.Arg3822=
NM_001369.2:c.11464C>A	NP_001360.1:p.Arg3822=
XM_005248262.2:c.11419C>A	XP_005248319.1:p.Arg3807=
XM_005248262.3:c.11572C>A	XP_005248319.2:p.Arg3858=
XM_017009177.1:c.11572C>A	XP_016864666.1:p.Arg3858=
XM_017009178.1:c.10477C>A	XP_016864667.1:p.Arg3493=
XM_017009179.2:c.10477C>A	XP_016864668.1:p.Arg3493=
XM_017009180.1:c.11572C>A	XP_016864669.1:p.Arg3858=
XM_017009181.1:c.11572C>A	XP_016864670.1:p.Arg3858=
XM_017009182.1:c.11328C>A	XP_016864671.1:p.Arg3776=
XM_017009185.1:c.6661C>A	XP_016864674.1:p.Arg2221=
XM_017009186.1:c.6214C>A	XP_016864675.1:p.Arg2072=
XM_017009188.1:c.5551C>A	XP_016864677.1:p.Arg1851=
XM_024454388.1:c.10477C>A	XP_024310156.1:p.Arg3493=
XM_024454389.1:c.10066C>A	XP_024310157.1:p.Arg3356=
NM_001369.3:c.11464C>A MANE Select	NP_001360.1:p.Arg3822=