Canonical Allele Identifier: CA443535384
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13871086A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870977A>T , CM000667.2:g.13870977A>T GRCh38
NC_000005.9:g.13871086A>T , CM000667.1:g.13871086A>T GRCh37
NC_000005.8:g.13924086A>T NCBI36
NG_013081.1:g.78504T>A
NG_013081.2:g.78504T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3624T>A MANE Select ENSP00000265104.4:p.Ala1208=
ENST00000681290.1:c.3579T>A ENSP00000505288.1:p.Ala1193=
ENST00000265104.4:c.3624T>A ENSP00000265104.4:p.Ala1208=
NM_001369.2:c.3624T>A NP_001360.1:p.Ala1208=
XM_005248262.2:c.3579T>A XP_005248319.1:p.Ala1193=
XM_011513990.1:c.3624T>A XP_011512292.1:p.Ala1208=
XR_925598.1:n.3831T>A
XM_005248262.3:c.3732T>A XP_005248319.2:p.Ala1244=
XM_017009177.1:c.3732T>A XP_016864666.1:p.Ala1244=
XM_017009178.1:c.2637T>A XP_016864667.1:p.Ala879=
XM_017009179.2:c.2637T>A XP_016864668.1:p.Ala879=
XM_017009180.1:c.3732T>A XP_016864669.1:p.Ala1244=
XM_017009181.1:c.3732T>A XP_016864670.1:p.Ala1244=
XM_017009182.1:c.3732T>A XP_016864671.1:p.Ala1244=
XM_017009183.1:c.3732T>A XP_016864672.1:p.Ala1244=
XM_017009184.1:c.3732T>A XP_016864673.1:p.Ala1244=
XM_017009187.1:c.3732T>A XP_016864676.1:p.Ala1244=
XM_024454388.1:c.2637T>A XP_024310156.1:p.Ala879=
XM_024454389.1:c.2226T>A XP_024310157.1:p.Ala742=
XR_001742034.1:n.3749T>A
XR_001742035.1:n.3749T>A
NM_001369.3:c.3624T>A MANE Select NP_001360.1:p.Ala1208=