Canonical Allele Identifier: CA2038181252
Gene: PMEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957155T= , CM000674.2:g.55957155T= GRCh38
NC_000012.11:g.56350939T= , CM000674.1:g.56350939T= GRCh37
NC_000012.10:g.54637206T= NCBI36
NG_028086.1:g.14558A=

Transcript Alleles

HGVS Amino-acid change
ENST00000548747.6:c.1148A= MANE Select ENSP00000448828.1:p.Glu383=
ENST00000449260.6:c.1148A= ENSP00000402758.2:p.Glu383=
ENST00000547137.5:c.986A= ENSP00000448849.1:p.Glu329=
ENST00000548493.5:c.1148A= ENSP00000447374.1:p.Glu383=
ENST00000548747.5:c.1148A= ENSP00000448828.1:p.Glu383=
ENST00000548803.5:c.670+31A= ENSP00000447732.1:n.670+31A=
ENST00000549404.5:c.779+31A=
ENST00000549564.1:n.188A=
ENST00000550447.5:c.359-1292A= ENSP00000448029.1:n.359-1292A=
ENST00000550464.5:c.890A= ENSP00000450036.1:p.Glu297=
ENST00000552882.5:c.1148A= ENSP00000449690.1:p.Glu383=
NM_001200053.1:c.890A= NP_001186982.1:p.Glu297=
NM_001200054.1:c.1148A= NP_001186983.1:p.Glu383=
NM_006928.4:c.1148A= NP_008859.1:p.Glu383=
XM_006719569.1:c.1148A= XP_006719632.1:p.Glu383=
XM_011538685.1:c.1148A= XP_011536987.1:p.Glu383=
XM_011538686.1:c.1117+31A= XP_011536988.1:n.1117+31A=
XM_011538687.1:c.1117+31A= XP_011536989.1:n.1117+31A=
NM_001320121.1:c.1117+31A= NP_001307050.1:n.1117+31A=
NM_001320122.1:c.1117+31A= NP_001307051.1:n.1117+31A=
NM_001384361.1:c.1148A= MANE Select NP_001371290.1:p.Glu383=
NM_006928.5:c.1148A= NP_008859.1:p.Glu383=