Canonical Allele Identifier: CA359212716
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440914
dbSNP Id: rs1755004469
gnomAD v4: 5-13780874-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780874G>C , CM000667.2:g.13780874G>C GRCh38
NC_000005.9:g.13780983G>C , CM000667.1:g.13780983G>C GRCh37
NC_000005.8:g.13833983G>C NCBI36
NG_013081.1:g.168607C>G
NG_013081.2:g.168607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8906C>G MANE Select ENSP00000265104.4:p.Ala2969Gly
ENST00000681290.1:c.8861C>G ENSP00000505288.1:p.Ala2954Gly
ENST00000265104.4:c.8906C>G ENSP00000265104.4:p.Ala2969Gly
NM_001369.2:c.8906C>G NP_001360.1:p.Ala2969Gly
XM_005248262.2:c.8861C>G XP_005248319.1:p.Ala2954Gly
XM_011513990.1:c.8906C>G XP_011512292.1:p.Ala2969Gly
XR_925598.1:n.9028-3519C>G
XM_005248262.3:c.9014C>G XP_005248319.2:p.Ala3005Gly
XM_017009177.1:c.9014C>G XP_016864666.1:p.Ala3005Gly
XM_017009178.1:c.7919C>G XP_016864667.1:p.Ala2640Gly
XM_017009179.2:c.7919C>G XP_016864668.1:p.Ala2640Gly
XM_017009180.1:c.9014C>G XP_016864669.1:p.Ala3005Gly
XM_017009181.1:c.9014C>G XP_016864670.1:p.Ala3005Gly
XM_017009182.1:c.9014C>G XP_016864671.1:p.Ala3005Gly
XM_017009183.1:c.9014C>G XP_016864672.1:p.Ala3005Gly
XM_017009184.1:c.9014C>G XP_016864673.1:p.Ala3005Gly
XM_017009185.1:c.4103C>G XP_016864674.1:p.Ala1368Gly
XM_017009186.1:c.3656C>G XP_016864675.1:p.Ala1219Gly
XM_017009188.1:c.2993C>G XP_016864677.1:p.Ala998Gly
XM_024454388.1:c.7919C>G XP_024310156.1:p.Ala2640Gly
XM_024454389.1:c.7508C>G XP_024310157.1:p.Ala2503Gly
XR_001742034.1:n.8946-3519C>G
XR_001742035.1:n.8946-3519C>G
NM_001369.3:c.8906C>G MANE Select NP_001360.1:p.Ala2969Gly