Canonical Allele Identifier: CA2077165383
Gene: GJB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20229784C= , CM000675.2:g.20229784C= GRCh38
NC_000013.10:g.20803923C= , CM000675.1:g.20803923C= GRCh37
NC_000013.9:g.19701923C= NCBI36
NG_008323.1:g.7612G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000241124.11:c.-185-35G= ENSP00000241124.6:n.-185-35G=
ENST00000400066.8:c.-185-35G= ENSP00000382939.3:n.-185-35G=
ENST00000642251.1:c.-185-35G= ENSP00000495437.1:n.-185-35G=
ENST00000643121.1:c.-185-35G= ENSP00000494468.1:n.-185-35G=
ENST00000643211.1:c.-185-35G= ENSP00000495841.1:n.-185-35G=
ENST00000644236.1:c.-185-35G= ENSP00000494122.1:n.-185-35G=
ENST00000644283.1:c.-185-35G= ENSP00000495320.1:n.-185-35G=
ENST00000644667.1:c.-185-35G= ENSP00000493621.1:n.-185-35G=
ENST00000645654.1:c.-220G= ENSP00000494720.1:n.-220G=
ENST00000646108.1:c.-206-14G= ENSP00000493512.1:n.-206-14G=
ENST00000647029.1:c.-185-35G= MANE Select ENSP00000493834.1:n.-185-35G=
ENST00000647243.1:c.-185-35G= ENSP00000494733.1:n.-185-35G=
ENST00000241124.10:c.-185-35G= ENSP00000241124.6:n.-185-35G=
ENST00000356192.6:c.-185-35G= ENSP00000348521.6:n.-185-35G=
ENST00000400065.7:c.-185-35G= ENSP00000382938.3:n.-185-35G=
ENST00000400066.7:c.-185-35G= ENSP00000382939.3:n.-185-35G=
NM_001110219.2:c.-185-35G= NP_001103689.1:n.-185-35G=
NM_001110220.2:c.-185-35G= NP_001103690.1:n.-185-35G=
NM_001110221.2:c.-185-35G= NP_001103691.1:n.-185-35G=
NM_006783.4:c.-185-35G= NP_006774.2:n.-185-35G=
NM_001110219.3:c.-185-35G= MANE Select NP_001103689.1:n.-185-35G=
NM_001370090.1:c.-185-35G= NP_001357019.1:n.-185-35G=
NM_001370091.1:c.-185-35G= NP_001357020.1:n.-185-35G=
NM_001370092.1:c.-185-35G= NP_001357021.1:n.-185-35G=
NM_001110220.3:c.-185-35G= NP_001103690.1:n.-185-35G=
NM_001110221.3:c.-185-35G= NP_001103691.1:n.-185-35G=
NM_006783.5:c.-185-35G= NP_006774.2:n.-185-35G=