Canonical Allele Identifier: CA443536812
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13901532A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13901423A>G , CM000667.2:g.13901423A>G GRCh38
NC_000005.9:g.13901532A>G , CM000667.1:g.13901532A>G GRCh37
NC_000005.8:g.13954532A>G NCBI36
NG_013081.1:g.48058T>C
NG_013081.2:g.48058T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.1881T>C MANE Select ENSP00000265104.4:p.Ile627=
ENST00000681290.1:c.1836T>C ENSP00000505288.1:p.Ile612=
ENST00000265104.4:c.1881T>C ENSP00000265104.4:p.Ile627=
NM_001369.2:c.1881T>C NP_001360.1:p.Ile627=
XM_005248262.2:c.1836T>C XP_005248319.1:p.Ile612=
XM_011513990.1:c.1881T>C XP_011512292.1:p.Ile627=
XR_925598.1:n.2088T>C
XM_005248262.3:c.1989T>C XP_005248319.2:p.Ile663=
XM_017009177.1:c.1989T>C XP_016864666.1:p.Ile663=
XM_017009178.1:c.894T>C XP_016864667.1:p.Ile298=
XM_017009179.2:c.894T>C XP_016864668.1:p.Ile298=
XM_017009180.1:c.1989T>C XP_016864669.1:p.Ile663=
XM_017009181.1:c.1989T>C XP_016864670.1:p.Ile663=
XM_017009182.1:c.1989T>C XP_016864671.1:p.Ile663=
XM_017009183.1:c.1989T>C XP_016864672.1:p.Ile663=
XM_017009184.1:c.1989T>C XP_016864673.1:p.Ile663=
XM_017009187.1:c.1989T>C XP_016864676.1:p.Ile663=
XM_024454388.1:c.894T>C XP_024310156.1:p.Ile298=
XM_024454389.1:c.483T>C XP_024310157.1:p.Ile161=
XR_001742034.1:n.2006T>C
XR_001742035.1:n.2006T>C
NM_001369.3:c.1881T>C MANE Select NP_001360.1:p.Ile627=