Canonical Allele Identifier: CA359201994

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769173T>A (hg19) ; chr5:g.13769064T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769064T>A , CM000667.2:g.13769064T>A	GRCh38
NC_000005.9:g.13769173T>A , CM000667.1:g.13769173T>A	GRCh37
NC_000005.8:g.13822173T>A	NCBI36
NG_013081.1:g.180417A>T
NG_013081.2:g.180417A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9793A>T MANE Select	ENSP00000265104.4:p.Arg3265Trp
ENST00000681290.1:c.9748A>T	ENSP00000505288.1:p.Arg3250Trp
ENST00000265104.4:c.9793A>T	ENSP00000265104.4:p.Arg3265Trp
ENST00000504001.3:n.505A>T
NM_001369.2:c.9793A>T	NP_001360.1:p.Arg3265Trp
XM_005248262.2:c.9748A>T	XP_005248319.1:p.Arg3250Trp
XM_005248262.3:c.9901A>T	XP_005248319.2:p.Arg3301Trp
XM_017009177.1:c.9901A>T	XP_016864666.1:p.Arg3301Trp
XM_017009178.1:c.8806A>T	XP_016864667.1:p.Arg2936Trp
XM_017009179.2:c.8806A>T	XP_016864668.1:p.Arg2936Trp
XM_017009180.1:c.9901A>T	XP_016864669.1:p.Arg3301Trp
XM_017009181.1:c.9901A>T	XP_016864670.1:p.Arg3301Trp
XM_017009182.1:c.9901A>T	XP_016864671.1:p.Arg3301Trp
XM_017009185.1:c.4990A>T	XP_016864674.1:p.Arg1664Trp
XM_017009186.1:c.4543A>T	XP_016864675.1:p.Arg1515Trp
XM_017009188.1:c.3880A>T	XP_016864677.1:p.Arg1294Trp
XM_024454388.1:c.8806A>T	XP_024310156.1:p.Arg2936Trp
XM_024454389.1:c.8395A>T	XP_024310157.1:p.Arg2799Trp
NM_001369.3:c.9793A>T MANE Select	NP_001360.1:p.Arg3265Trp