Canonical Allele Identifier: CA443254896
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13839470T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13839361T>A , CM000667.2:g.13839361T>A GRCh38
NC_000005.9:g.13839470T>A , CM000667.1:g.13839470T>A GRCh37
NC_000005.8:g.13892470T>A NCBI36
NG_013081.1:g.110120A>T
NG_013081.2:g.110120A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5877A>T MANE Select ENSP00000265104.4:p.Thr1959=
ENST00000681290.1:c.5832A>T ENSP00000505288.1:p.Thr1944=
ENST00000265104.4:c.5877A>T ENSP00000265104.4:p.Thr1959=
NM_001369.2:c.5877A>T NP_001360.1:p.Thr1959=
XM_005248262.2:c.5832A>T XP_005248319.1:p.Thr1944=
XM_011513990.1:c.5877A>T XP_011512292.1:p.Thr1959=
XR_925598.1:n.6084A>T
XM_005248262.3:c.5985A>T XP_005248319.2:p.Thr1995=
XM_017009177.1:c.5985A>T XP_016864666.1:p.Thr1995=
XM_017009178.1:c.4890A>T XP_016864667.1:p.Thr1630=
XM_017009179.2:c.4890A>T XP_016864668.1:p.Thr1630=
XM_017009180.1:c.5985A>T XP_016864669.1:p.Thr1995=
XM_017009181.1:c.5985A>T XP_016864670.1:p.Thr1995=
XM_017009182.1:c.5985A>T XP_016864671.1:p.Thr1995=
XM_017009183.1:c.5985A>T XP_016864672.1:p.Thr1995=
XM_017009184.1:c.5985A>T XP_016864673.1:p.Thr1995=
XM_017009185.1:c.1074A>T XP_016864674.1:p.Thr358=
XM_017009186.1:c.627A>T XP_016864675.1:p.Thr209=
XM_017009187.1:c.5985A>T XP_016864676.1:p.Thr1995=
XM_024454388.1:c.4890A>T XP_024310156.1:p.Thr1630=
XM_024454389.1:c.4479A>T XP_024310157.1:p.Thr1493=
XR_001742034.1:n.6002A>T
XR_001742035.1:n.6002A>T
NM_001369.3:c.5877A>T MANE Select NP_001360.1:p.Thr1959=