Canonical Allele Identifier: CA6620087

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957284G>T , CM000674.2:g.55957284G>T	GRCh38
NC_000012.11:g.56351068G>T , CM000674.1:g.56351068G>T	GRCh37
NC_000012.10:g.54637335G>T	NCBI36
NG_028086.1:g.14429C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384361.1:c.1019C>A MANE Select	NP_001371290.1:p.Ala340Glu
ENST00000548747.6:c.1019C>A MANE Select	ENSP00000448828.1:p.Ala340Glu
NM_001200053.1:c.761C>A	NP_001186982.1:p.Ala254Glu
NM_001200054.1:c.1019C>A	NP_001186983.1:p.Ala340Glu
NM_001320121.1:c.1019C>A	NP_001307050.1:p.Ala340Glu
NM_001320122.1:c.1019C>A	NP_001307051.1:p.Ala340Glu
NM_006928.4:c.1019C>A	NP_008859.1:p.Ala340Glu
NM_006928.5:c.1019C>A	NP_008859.1:p.Ala340Glu
ENST00000449260.6:c.1019C>A	ENSP00000402758.2:p.Ala340Glu
ENST00000546543.5:c.872C>A	ENSP00000446662.1:p.Ala291Glu
ENST00000547137.5:c.857C>A	ENSP00000448849.1:p.Ala286Glu
ENST00000548493.5:c.1019C>A	ENSP00000447374.1:p.Ala340Glu
ENST00000548747.5:c.1019C>A	ENSP00000448828.1:p.Ala340Glu
ENST00000548803.5:c.572C>A	ENSP00000447732.1:p.Ala191Glu
ENST00000549404.5:c.681C>A
ENST00000549564.1:n.59C>A
ENST00000550447.5:c.358+1189C>A	ENSP00000448029.1:n.358+1189C>A
ENST00000550464.5:c.761C>A	ENSP00000450036.1:p.Ala254Glu
ENST00000552882.5:c.1019C>A	ENSP00000449690.1:p.Ala340Glu
XM_006719569.1:c.1019C>A	XP_006719632.1:p.Ala340Glu
XM_011538685.1:c.1019C>A	XP_011536987.1:p.Ala340Glu
XM_011538686.1:c.1019C>A	XP_011536988.1:p.Ala340Glu
XM_011538687.1:c.1019C>A	XP_011536989.1:p.Ala340Glu