Canonical Allele Identifier: CA379935679

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.26565173G>C , CM000673.2:g.26565173G>C GRCh38
NC_000011.9:g.26586720G>C , CM000673.1:g.26586720G>C GRCh37
NC_000011.8:g.26543296G>C NCBI36
NG_042856.1:g.381051G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256737.8:c.1447+5394G>C (ANO3) MANE Select ENSP00000256737.3:n.1447+5394G>C
ENST00000529533.6:c.767C>G (MUC15) MANE Select ENSP00000431983.1:p.Pro256Arg
ENST00000648230.1:c.767C>G (MUC15) ENSP00000498053.1:p.Pro256Arg
ENST00000672621.1:c.1630+5394G>C (ANO3) ENSP00000500506.1:n.1630+5394G>C
ENST00000256737.7:c.1447+5394G>C (ANO3) ENSP00000256737.3:n.1447+5394G>C
ENST00000281268.12:c.767C>G (MUC15) ENSP00000281268.8:p.Pro256Arg
ENST00000436318.6:c.767C>G (MUC15) ENSP00000416753.2:p.Pro256Arg
ENST00000455601.6:c.686C>G (MUC15) ENSP00000397339.2:p.Pro229Arg
ENST00000525139.5:c.1399+5394G>C (ANO3) ENSP00000432576.1:n.1399+5394G>C
ENST00000527569.1:c.767C>G (MUC15) ENSP00000431945.1:p.Pro256Arg
ENST00000529533.5:c.767C>G (MUC15) ENSP00000431983.1:p.Pro256Arg
ENST00000531568.1:c.1009+5394G>C (ANO3) ENSP00000432394.1:n.1009+5394G>C
NM_001135091.1:c.767C>G (MUC15) NP_001128563.1:p.Pro256Arg
NM_001135092.1:c.767C>G (MUC15) NP_001128564.1:p.Pro256Arg
NM_001313726.1:c.1630+5394G>C (ANO3) NP_001300655.1:n.1630+5394G>C
NM_001313727.1:c.1009+5394G>C (ANO3) NP_001300656.1:n.1009+5394G>C
NM_031418.2:c.1447+5394G>C (ANO3) NP_113606.2:n.1447+5394G>C
NM_031418.3:c.1447+5394G>C (ANO3) NP_113606.2:n.1447+5394G>C
NM_145650.3:c.686C>G (MUC15) NP_663625.2:p.Pro229Arg
XM_011519908.1:c.1034C>G (MUC15) XP_011518210.1:p.Pro345Arg
XM_011519909.1:c.1034C>G (MUC15) XP_011518211.1:p.Pro345Arg
XM_017018118.2:c.1009+5394G>C (ANO3) XP_016873607.1:n.1009+5394G>C
XM_017018119.2:c.718+5394G>C (ANO3) XP_016873608.1:n.718+5394G>C
NM_001135091.2:c.767C>G (MUC15) MANE Select NP_001128563.1:p.Pro256Arg
NM_031418.4:c.1447+5394G>C (ANO3) MANE Select NP_113606.2:n.1447+5394G>C
NM_001135092.2:c.767C>G (MUC15) NP_001128564.1:p.Pro256Arg
NM_145650.4:c.686C>G (MUC15) NP_663625.2:p.Pro229Arg
NM_001313726.2:c.1630+5394G>C (ANO3) NP_001300655.1:n.1630+5394G>C
NM_001313727.2:c.1009+5394G>C (ANO3) NP_001300656.1:n.1009+5394G>C