Canonical Allele Identifier: CA443257074
Community Standard Title: NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=)
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13777289G>A , CM000667.2:g.13777289G>A GRCh38
NC_000005.9:g.13777398G>A , CM000667.1:g.13777398G>A GRCh37
NC_000005.8:g.13830398G>A NCBI36
NG_013081.1:g.172192C>T
NG_013081.2:g.172192C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001369.3:c.9018C>T MANE Select NP_001360.1:p.Gly3006=
ENST00000265104.5:c.9018C>T MANE Select ENSP00000265104.4:p.Gly3006=
NM_001369.2:c.9018C>T NP_001360.1:p.Gly3006=
ENST00000265104.4:c.9018C>T ENSP00000265104.4:p.Gly3006=
ENST00000681290.1:c.8973C>T ENSP00000505288.1:p.Gly2991=
XM_005248262.2:c.8973C>T XP_005248319.1:p.Gly2991=
XM_005248262.3:c.9126C>T XP_005248319.2:p.Gly3042=
XM_011513990.1:c.9018C>T XP_011512292.1:p.Gly3006=
XM_017009177.1:c.9126C>T XP_016864666.1:p.Gly3042=
XM_017009178.1:c.8031C>T XP_016864667.1:p.Gly2677=
XM_017009179.2:c.8031C>T XP_016864668.1:p.Gly2677=
XM_017009180.1:c.9126C>T XP_016864669.1:p.Gly3042=
XM_017009181.1:c.9126C>T XP_016864670.1:p.Gly3042=
XM_017009182.1:c.9126C>T XP_016864671.1:p.Gly3042=
XM_017009183.1:c.9126C>T XP_016864672.1:p.Gly3042=
XM_017009184.1:c.9126C>T XP_016864673.1:p.Gly3042=
XM_017009185.1:c.4215C>T XP_016864674.1:p.Gly1405=
XM_017009186.1:c.3768C>T XP_016864675.1:p.Gly1256=
XM_017009188.1:c.3105C>T XP_016864677.1:p.Gly1035=
XM_024454388.1:c.8031C>T XP_024310156.1:p.Gly2677=
XM_024454389.1:c.7620C>T XP_024310157.1:p.Gly2540=
XR_001742034.1:n.9012C>T
XR_001742035.1:n.9012C>T
XR_925598.1:n.9094C>T