Canonical Allele Identifier: CA443535493

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753417A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753308A>C , CM000667.2:g.13753308A>C	GRCh38
NC_000005.9:g.13753417A>C , CM000667.1:g.13753417A>C	GRCh37
NC_000005.8:g.13806417A>C	NCBI36
NG_013081.1:g.196173T>G
NG_013081.2:g.196173T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10797T>G MANE Select	ENSP00000265104.4:p.Arg3599=
ENST00000681290.1:c.10752T>G	ENSP00000505288.1:p.Arg3584=
ENST00000265104.4:c.10797T>G	ENSP00000265104.4:p.Arg3599=
NM_001369.2:c.10797T>G	NP_001360.1:p.Arg3599=
XM_005248262.2:c.10752T>G	XP_005248319.1:p.Arg3584=
XM_005248262.3:c.10905T>G	XP_005248319.2:p.Arg3635=
XM_017009177.1:c.10905T>G	XP_016864666.1:p.Arg3635=
XM_017009178.1:c.9810T>G	XP_016864667.1:p.Arg3270=
XM_017009179.2:c.9810T>G	XP_016864668.1:p.Arg3270=
XM_017009180.1:c.10905T>G	XP_016864669.1:p.Arg3635=
XM_017009181.1:c.10905T>G	XP_016864670.1:p.Arg3635=
XM_017009182.1:c.10905T>G	XP_016864671.1:p.Arg3635=
XM_017009185.1:c.5994T>G	XP_016864674.1:p.Arg1998=
XM_017009186.1:c.5547T>G	XP_016864675.1:p.Arg1849=
XM_017009188.1:c.4884T>G	XP_016864677.1:p.Arg1628=
XM_024454388.1:c.9810T>G	XP_024310156.1:p.Arg3270=
XM_024454389.1:c.9399T>G	XP_024310157.1:p.Arg3133=
NM_001369.3:c.10797T>G MANE Select	NP_001360.1:p.Arg3599=