Canonical Allele Identifier: CA2038180873
Gene: PMEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55956963G= , CM000674.2:g.55956963G= GRCh38
NC_000012.11:g.56350747G= , CM000674.1:g.56350747G= GRCh37
NC_000012.10:g.54637014G= NCBI36
NG_028086.1:g.14750C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000548747.6:c.1340C= MANE Select ENSP00000448828.1:p.Thr447=
ENST00000449260.6:c.1340C= ENSP00000402758.2:p.Thr447=
ENST00000548493.5:c.1340C= ENSP00000447374.1:p.Thr447=
ENST00000548747.5:c.1340C= ENSP00000448828.1:p.Thr447=
ENST00000548803.5:c.767C= ENSP00000447732.1:p.Thr256=
ENST00000549404.5:c.876C=
ENST00000549564.1:n.235+145C=
ENST00000550447.5:c.359-1100C= ENSP00000448029.1:n.359-1100C=
ENST00000550464.5:c.1082C= ENSP00000450036.1:p.Thr361=
ENST00000552882.5:c.1340C= ENSP00000449690.1:p.Thr447=
NM_001200053.1:c.1082C= NP_001186982.1:p.Thr361=
NM_001200054.1:c.1340C= NP_001186983.1:p.Thr447=
NM_006928.4:c.1340C= NP_008859.1:p.Thr447=
XM_006719569.1:c.1340C= XP_006719632.1:p.Thr447=
XM_011538685.1:c.1340C= XP_011536987.1:p.Thr447=
XM_011538686.1:c.1214C= XP_011536988.1:p.Thr405=
XM_011538687.1:c.1214C= XP_011536989.1:p.Thr405=
NM_001320121.1:c.1214C= NP_001307050.1:p.Thr405=
NM_001320122.1:c.1214C= NP_001307051.1:p.Thr405=
NM_001384361.1:c.1340C= MANE Select NP_001371290.1:p.Thr447=
NM_006928.5:c.1340C= NP_008859.1:p.Thr447=