Canonical Allele Identifier: CA359204095
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770752T>A , CM000667.2:g.13770752T>A GRCh38
NC_000005.9:g.13770861T>A , CM000667.1:g.13770861T>A GRCh37
NC_000005.8:g.13823861T>A NCBI36
NG_013081.1:g.178729A>T
NG_013081.2:g.178729A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.9602A>T MANE Select ENSP00000265104.4:p.Asn3201Ile
ENST00000681290.1:c.9557A>T ENSP00000505288.1:p.Asn3186Ile
ENST00000265104.4:c.9602A>T ENSP00000265104.4:p.Asn3201Ile
ENST00000504001.3:n.314A>T
NM_001369.2:c.9602A>T NP_001360.1:p.Asn3201Ile
XM_005248262.2:c.9557A>T XP_005248319.1:p.Asn3186Ile
XM_005248262.3:c.9710A>T XP_005248319.2:p.Asn3237Ile
XM_017009177.1:c.9710A>T XP_016864666.1:p.Asn3237Ile
XM_017009178.1:c.8615A>T XP_016864667.1:p.Asn2872Ile
XM_017009179.2:c.8615A>T XP_016864668.1:p.Asn2872Ile
XM_017009180.1:c.9710A>T XP_016864669.1:p.Asn3237Ile
XM_017009181.1:c.9710A>T XP_016864670.1:p.Asn3237Ile
XM_017009182.1:c.9710A>T XP_016864671.1:p.Asn3237Ile
XM_017009183.1:c.9710A>T XP_016864672.1:p.Asn3237Ile
XM_017009185.1:c.4799A>T XP_016864674.1:p.Asn1600Ile
XM_017009186.1:c.4352A>T XP_016864675.1:p.Asn1451Ile
XM_017009188.1:c.3689A>T XP_016864677.1:p.Asn1230Ile
XM_024454388.1:c.8615A>T XP_024310156.1:p.Asn2872Ile
XM_024454389.1:c.8204A>T XP_024310157.1:p.Asn2735Ile
NM_001369.3:c.9602A>T MANE Select NP_001360.1:p.Asn3201Ile