Canonical Allele Identifier: CA359189695
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752153T>A , CM000667.2:g.13752153T>A GRCh38
NC_000005.9:g.13752262T>A , CM000667.1:g.13752262T>A GRCh37
NC_000005.8:g.13805262T>A NCBI36
NG_013081.1:g.197328A>T
NG_013081.2:g.197328A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.11009A>T MANE Select ENSP00000265104.4:p.Lys3670Ile
ENST00000681290.1:c.10964A>T ENSP00000505288.1:p.Lys3655Ile
ENST00000265104.4:c.11009A>T ENSP00000265104.4:p.Lys3670Ile
NM_001369.2:c.11009A>T NP_001360.1:p.Lys3670Ile
XM_005248262.2:c.10964A>T XP_005248319.1:p.Lys3655Ile
XM_005248262.3:c.11117A>T XP_005248319.2:p.Lys3706Ile
XM_017009177.1:c.11117A>T XP_016864666.1:p.Lys3706Ile
XM_017009178.1:c.10022A>T XP_016864667.1:p.Lys3341Ile
XM_017009179.2:c.10022A>T XP_016864668.1:p.Lys3341Ile
XM_017009180.1:c.11117A>T XP_016864669.1:p.Lys3706Ile
XM_017009181.1:c.11117A>T XP_016864670.1:p.Lys3706Ile
XM_017009182.1:c.11117A>T XP_016864671.1:p.Lys3706Ile
XM_017009185.1:c.6206A>T XP_016864674.1:p.Lys2069Ile
XM_017009186.1:c.5759A>T XP_016864675.1:p.Lys1920Ile
XM_017009188.1:c.5096A>T XP_016864677.1:p.Lys1699Ile
XM_024454388.1:c.10022A>T XP_024310156.1:p.Lys3341Ile
XM_024454389.1:c.9611A>T XP_024310157.1:p.Lys3204Ile
NM_001369.3:c.11009A>T MANE Select NP_001360.1:p.Lys3670Ile