Canonical Allele Identifier: CA443535474

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753405T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753296T>C , CM000667.2:g.13753296T>C	GRCh38
NC_000005.9:g.13753405T>C , CM000667.1:g.13753405T>C	GRCh37
NC_000005.8:g.13806405T>C	NCBI36
NG_013081.1:g.196185A>G
NG_013081.2:g.196185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10809A>G MANE Select	ENSP00000265104.4:p.Leu3603=
ENST00000681290.1:c.10764A>G	ENSP00000505288.1:p.Leu3588=
ENST00000265104.4:c.10809A>G	ENSP00000265104.4:p.Leu3603=
NM_001369.2:c.10809A>G	NP_001360.1:p.Leu3603=
XM_005248262.2:c.10764A>G	XP_005248319.1:p.Leu3588=
XM_005248262.3:c.10917A>G	XP_005248319.2:p.Leu3639=
XM_017009177.1:c.10917A>G	XP_016864666.1:p.Leu3639=
XM_017009178.1:c.9822A>G	XP_016864667.1:p.Leu3274=
XM_017009179.2:c.9822A>G	XP_016864668.1:p.Leu3274=
XM_017009180.1:c.10917A>G	XP_016864669.1:p.Leu3639=
XM_017009181.1:c.10917A>G	XP_016864670.1:p.Leu3639=
XM_017009182.1:c.10917A>G	XP_016864671.1:p.Leu3639=
XM_017009185.1:c.6006A>G	XP_016864674.1:p.Leu2002=
XM_017009186.1:c.5559A>G	XP_016864675.1:p.Leu1853=
XM_017009188.1:c.4896A>G	XP_016864677.1:p.Leu1632=
XM_024454388.1:c.9822A>G	XP_024310156.1:p.Leu3274=
XM_024454389.1:c.9411A>G	XP_024310157.1:p.Leu3137=
NM_001369.3:c.10809A>G MANE Select	NP_001360.1:p.Leu3603=