Canonical Allele Identifier: CA2212283627
Gene: DNAH3 HGNC NCBI

Linked Data

dbSNP Id: rs2091846473

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21101890G>T , CM000678.2:g.21101890G>T GRCh38
NC_000016.9:g.21113211G>T , CM000678.1:g.21113211G>T GRCh37
NC_000016.8:g.21020712G>T NCBI36
NG_052617.1:g.62552C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698260.1:c.2228+2581C>A MANE Select ENSP00000513632.1:n.2228+2581C>A
ENST00000685858.1:c.2408+2581C>A ENSP00000508756.1:n.2408+2581C>A
ENST00000261383.3:c.2366+2581C>A ENSP00000261383.3:n.2366+2581C>A
NM_017539.2:c.2366+2581C>A NP_060009.1:n.2366+2581C>A
XM_006721062.1:c.2228+2581C>A XP_006721125.1:n.2228+2581C>A
XM_011545882.1:c.2249+2581C>A XP_011544184.1:n.2249+2581C>A
XM_011545883.1:c.2249+2581C>A XP_011544185.1:n.2249+2581C>A
XM_011545884.1:c.2006+2581C>A XP_011544186.1:n.2006+2581C>A
XM_011545885.1:c.2249+2581C>A XP_011544187.1:n.2249+2581C>A
XM_011545886.1:c.1238+2581C>A XP_011544188.1:n.1238+2581C>A
XM_011545887.1:c.446+2581C>A XP_011544189.1:n.446+2581C>A
XM_011545890.1:c.2249+2581C>A XP_011544192.1:n.2249+2581C>A
NM_001347886.1:c.2228+2581C>A NP_001334815.1:n.2228+2581C>A
XM_011545882.2:c.2249+2581C>A XP_011544184.1:n.2249+2581C>A
XM_011545885.3:c.2249+2581C>A XP_011544187.1:n.2249+2581C>A
XM_011545886.2:c.1238+2581C>A XP_011544188.1:n.1238+2581C>A
XM_017023426.1:c.2249+2581C>A XP_016878915.1:n.2249+2581C>A
XM_017023427.1:c.2006+2581C>A XP_016878916.1:n.2006+2581C>A
XM_017023428.1:c.2249+2581C>A XP_016878917.1:n.2249+2581C>A
XM_017023429.1:c.2249+2581C>A XP_016878918.1:n.2249+2581C>A
XM_017023431.1:c.2249+2581C>A XP_016878920.1:n.2249+2581C>A
XM_017023432.1:c.2408+2581C>A XP_016878921.1:n.2408+2581C>A
NM_001347886.2:c.2228+2581C>A MANE Select NP_001334815.1:n.2228+2581C>A