Canonical Allele Identifier: CA443265811
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13793664A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13793555A>G , CM000667.2:g.13793555A>G GRCh38
NC_000005.9:g.13793664A>G , CM000667.1:g.13793664A>G GRCh37
NC_000005.8:g.13846664A>G NCBI36
NG_013081.1:g.155926T>C
NG_013081.2:g.155926T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8184T>C MANE Select ENSP00000265104.4:p.Asn2728=
ENST00000681290.1:c.8139T>C ENSP00000505288.1:p.Asn2713=
ENST00000265104.4:c.8184T>C ENSP00000265104.4:p.Asn2728=
NM_001369.2:c.8184T>C NP_001360.1:p.Asn2728=
XM_005248262.2:c.8139T>C XP_005248319.1:p.Asn2713=
XM_011513990.1:c.8184T>C XP_011512292.1:p.Asn2728=
XR_925598.1:n.8391T>C
XM_005248262.3:c.8292T>C XP_005248319.2:p.Asn2764=
XM_017009177.1:c.8292T>C XP_016864666.1:p.Asn2764=
XM_017009178.1:c.7197T>C XP_016864667.1:p.Asn2399=
XM_017009179.2:c.7197T>C XP_016864668.1:p.Asn2399=
XM_017009180.1:c.8292T>C XP_016864669.1:p.Asn2764=
XM_017009181.1:c.8292T>C XP_016864670.1:p.Asn2764=
XM_017009182.1:c.8292T>C XP_016864671.1:p.Asn2764=
XM_017009183.1:c.8292T>C XP_016864672.1:p.Asn2764=
XM_017009184.1:c.8292T>C XP_016864673.1:p.Asn2764=
XM_017009185.1:c.3381T>C XP_016864674.1:p.Asn1127=
XM_017009186.1:c.2934T>C XP_016864675.1:p.Asn978=
XM_017009188.1:c.2271T>C XP_016864677.1:p.Asn757=
XM_024454388.1:c.7197T>C XP_024310156.1:p.Asn2399=
XM_024454389.1:c.6786T>C XP_024310157.1:p.Asn2262=
XR_001742034.1:n.8309T>C
XR_001742035.1:n.8309T>C
NM_001369.3:c.8184T>C MANE Select NP_001360.1:p.Asn2728=