Canonical Allele Identifier: CA443259107
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13780973A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780864A>T , CM000667.2:g.13780864A>T GRCh38
NC_000005.9:g.13780973A>T , CM000667.1:g.13780973A>T GRCh37
NC_000005.8:g.13833973A>T NCBI36
NG_013081.1:g.168617T>A
NG_013081.2:g.168617T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.8916T>A MANE Select ENSP00000265104.4:p.Ile2972=
ENST00000681290.1:c.8871T>A ENSP00000505288.1:p.Ile2957=
ENST00000265104.4:c.8916T>A ENSP00000265104.4:p.Ile2972=
NM_001369.2:c.8916T>A NP_001360.1:p.Ile2972=
XM_005248262.2:c.8871T>A XP_005248319.1:p.Ile2957=
XM_011513990.1:c.8916T>A XP_011512292.1:p.Ile2972=
XR_925598.1:n.9028-3509T>A
XM_005248262.3:c.9024T>A XP_005248319.2:p.Ile3008=
XM_017009177.1:c.9024T>A XP_016864666.1:p.Ile3008=
XM_017009178.1:c.7929T>A XP_016864667.1:p.Ile2643=
XM_017009179.2:c.7929T>A XP_016864668.1:p.Ile2643=
XM_017009180.1:c.9024T>A XP_016864669.1:p.Ile3008=
XM_017009181.1:c.9024T>A XP_016864670.1:p.Ile3008=
XM_017009182.1:c.9024T>A XP_016864671.1:p.Ile3008=
XM_017009183.1:c.9024T>A XP_016864672.1:p.Ile3008=
XM_017009184.1:c.9024T>A XP_016864673.1:p.Ile3008=
XM_017009185.1:c.4113T>A XP_016864674.1:p.Ile1371=
XM_017009186.1:c.3666T>A XP_016864675.1:p.Ile1222=
XM_017009188.1:c.3003T>A XP_016864677.1:p.Ile1001=
XM_024454388.1:c.7929T>A XP_024310156.1:p.Ile2643=
XM_024454389.1:c.7518T>A XP_024310157.1:p.Ile2506=
XR_001742034.1:n.8946-3509T>A
XR_001742035.1:n.8946-3509T>A
NM_001369.3:c.8916T>A MANE Select NP_001360.1:p.Ile2972=