Canonical Allele Identifier: CA1528403763
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708209T= , CM000667.2:g.13708209T= GRCh38
NC_000005.9:g.13708318T= , CM000667.1:g.13708318T= GRCh37
NC_000005.8:g.13761318T= NCBI36
NG_013081.1:g.241272A=
NG_013081.2:g.241272A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.585A=
ENST00000265104.5:c.13252A= MANE Select ENSP00000265104.4:p.Ile4418=
ENST00000681290.1:c.13207A= ENSP00000505288.1:p.Ile4403=
ENST00000265104.4:c.13252A= ENSP00000265104.4:p.Ile4418=
NM_001369.2:c.13252A= NP_001360.1:p.Ile4418=
XM_005248262.2:c.13207A= XP_005248319.1:p.Ile4403=
XM_005248262.3:c.13360A= XP_005248319.2:p.Ile4454=
XM_017009177.1:c.12940A= XP_016864666.1:p.Ile4314=
XM_017009178.1:c.12265A= XP_016864667.1:p.Ile4089=
XM_017009179.2:c.12265A= XP_016864668.1:p.Ile4089=
XM_017009185.1:c.8449A= XP_016864674.1:p.Ile2817=
XM_017009186.1:c.8002A= XP_016864675.1:p.Ile2668=
XM_017009188.1:c.7339A= XP_016864677.1:p.Ile2447=
XM_024454388.1:c.12265A= XP_024310156.1:p.Ile4089=
XM_024454389.1:c.11854A= XP_024310157.1:p.Ile3952=
NM_001369.3:c.13252A= MANE Select NP_001360.1:p.Ile4418=