Canonical Allele Identifier: CA2038181292
Gene: PMEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957192T= , CM000674.2:g.55957192T= GRCh38
NC_000012.11:g.56350976T= , CM000674.1:g.56350976T= GRCh37
NC_000012.10:g.54637243T= NCBI36
NG_028086.1:g.14521A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000548747.6:c.1111A= MANE Select ENSP00000448828.1:p.Ser371=
ENST00000449260.6:c.1111A= ENSP00000402758.2:p.Ser371=
ENST00000547137.5:c.949A= ENSP00000448849.1:p.Ser317=
ENST00000548493.5:c.1111A= ENSP00000447374.1:p.Ser371=
ENST00000548747.5:c.1111A= ENSP00000448828.1:p.Ser371=
ENST00000548803.5:c.664A= ENSP00000447732.1:p.Ser222=
ENST00000549404.5:c.773A=
ENST00000549564.1:n.151A=
ENST00000550447.5:c.358+1281A= ENSP00000448029.1:n.358+1281A=
ENST00000550464.5:c.853A= ENSP00000450036.1:p.Ser285=
ENST00000552882.5:c.1111A= ENSP00000449690.1:p.Ser371=
NM_001200053.1:c.853A= NP_001186982.1:p.Ser285=
NM_001200054.1:c.1111A= NP_001186983.1:p.Ser371=
NM_006928.4:c.1111A= NP_008859.1:p.Ser371=
XM_006719569.1:c.1111A= XP_006719632.1:p.Ser371=
XM_011538685.1:c.1111A= XP_011536987.1:p.Ser371=
XM_011538686.1:c.1111A= XP_011536988.1:p.Ser371=
XM_011538687.1:c.1111A= XP_011536989.1:p.Ser371=
NM_001320121.1:c.1111A= NP_001307050.1:p.Ser371=
NM_001320122.1:c.1111A= NP_001307051.1:p.Ser371=
NM_001384361.1:c.1111A= MANE Select NP_001371290.1:p.Ser371=
NM_006928.5:c.1111A= NP_008859.1:p.Ser371=