Canonical Allele Identifier: CA359199948
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13829563C>A , CM000667.2:g.13829563C>A GRCh38
NC_000005.9:g.13829672C>A , CM000667.1:g.13829672C>A GRCh37
NC_000005.8:g.13882672C>A NCBI36
NG_013081.1:g.119918G>T
NG_013081.2:g.119918G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683090.1:n.1322G>T
ENST00000265104.5:c.6391G>T MANE Select ENSP00000265104.4:p.Ala2131Ser
ENST00000681290.1:c.6346G>T ENSP00000505288.1:p.Ala2116Ser
ENST00000265104.4:c.6391G>T ENSP00000265104.4:p.Ala2131Ser
NM_001369.2:c.6391G>T NP_001360.1:p.Ala2131Ser
XM_005248262.2:c.6346G>T XP_005248319.1:p.Ala2116Ser
XM_011513990.1:c.6391G>T XP_011512292.1:p.Ala2131Ser
XR_925598.1:n.6598G>T
XM_005248262.3:c.6499G>T XP_005248319.2:p.Ala2167Ser
XM_017009177.1:c.6499G>T XP_016864666.1:p.Ala2167Ser
XM_017009178.1:c.5404G>T XP_016864667.1:p.Ala1802Ser
XM_017009179.2:c.5404G>T XP_016864668.1:p.Ala1802Ser
XM_017009180.1:c.6499G>T XP_016864669.1:p.Ala2167Ser
XM_017009181.1:c.6499G>T XP_016864670.1:p.Ala2167Ser
XM_017009182.1:c.6499G>T XP_016864671.1:p.Ala2167Ser
XM_017009183.1:c.6499G>T XP_016864672.1:p.Ala2167Ser
XM_017009184.1:c.6499G>T XP_016864673.1:p.Ala2167Ser
XM_017009185.1:c.1588G>T XP_016864674.1:p.Ala530Ser
XM_017009186.1:c.1141G>T XP_016864675.1:p.Ala381Ser
XM_017009187.1:c.6499G>T XP_016864676.1:p.Ala2167Ser
XM_017009188.1:c.478G>T XP_016864677.1:p.Ala160Ser
XM_024454388.1:c.5404G>T XP_024310156.1:p.Ala1802Ser
XM_024454389.1:c.4993G>T XP_024310157.1:p.Ala1665Ser
XR_001742034.1:n.6516G>T
XR_001742035.1:n.6516G>T
NM_001369.3:c.6391G>T MANE Select NP_001360.1:p.Ala2131Ser