Canonical Allele Identifier: CA443253814
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13769147G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769038G>T , CM000667.2:g.13769038G>T GRCh38
NC_000005.9:g.13769147G>T , CM000667.1:g.13769147G>T GRCh37
NC_000005.8:g.13822147G>T NCBI36
NG_013081.1:g.180443C>A
NG_013081.2:g.180443C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9819C>A MANE Select ENSP00000265104.4:p.Ile3273=
ENST00000681290.1:c.9774C>A ENSP00000505288.1:p.Ile3258=
ENST00000265104.4:c.9819C>A ENSP00000265104.4:p.Ile3273=
ENST00000504001.3:n.531C>A
NM_001369.2:c.9819C>A NP_001360.1:p.Ile3273=
XM_005248262.2:c.9774C>A XP_005248319.1:p.Ile3258=
XM_005248262.3:c.9927C>A XP_005248319.2:p.Ile3309=
XM_017009177.1:c.9927C>A XP_016864666.1:p.Ile3309=
XM_017009178.1:c.8832C>A XP_016864667.1:p.Ile2944=
XM_017009179.2:c.8832C>A XP_016864668.1:p.Ile2944=
XM_017009180.1:c.9927C>A XP_016864669.1:p.Ile3309=
XM_017009181.1:c.9927C>A XP_016864670.1:p.Ile3309=
XM_017009182.1:c.9927C>A XP_016864671.1:p.Ile3309=
XM_017009185.1:c.5016C>A XP_016864674.1:p.Ile1672=
XM_017009186.1:c.4569C>A XP_016864675.1:p.Ile1523=
XM_017009188.1:c.3906C>A XP_016864677.1:p.Ile1302=
XM_024454388.1:c.8832C>A XP_024310156.1:p.Ile2944=
XM_024454389.1:c.8421C>A XP_024310157.1:p.Ile2807=
NM_001369.3:c.9819C>A MANE Select NP_001360.1:p.Ile3273=