Canonical Allele Identifier: CA385220150

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55961319T>A , CM000674.2:g.55961319T>A	GRCh38
NC_000012.11:g.56355103T>A , CM000674.1:g.56355103T>A	GRCh37
NC_000012.10:g.54641370T>A	NCBI36
NG_028086.1:g.10394A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001384361.1:c.332A>T MANE Select	NP_001371290.1:p.Asn111Ile
ENST00000548747.6:c.332A>T MANE Select	ENSP00000448828.1:p.Asn111Ile
NM_001200053.1:c.77-2712A>T	NP_001186982.1:n.77-2712A>T
NM_001200054.1:c.332A>T	NP_001186983.1:p.Asn111Ile
NM_001320121.1:c.332A>T	NP_001307050.1:p.Asn111Ile
NM_001320122.1:c.332A>T	NP_001307051.1:p.Asn111Ile
NM_006928.4:c.332A>T	NP_008859.1:p.Asn111Ile
NM_006928.5:c.332A>T	NP_008859.1:p.Asn111Ile
ENST00000449260.6:c.332A>T	ENSP00000402758.2:p.Asn111Ile
ENST00000546543.5:c.187+303A>T	ENSP00000446662.1:n.187+303A>T
ENST00000547137.5:c.332A>T	ENSP00000448849.1:p.Asn111Ile
ENST00000548493.5:c.332A>T	ENSP00000447374.1:p.Asn111Ile
ENST00000548689.5:n.288A>T
ENST00000548747.5:c.332A>T	ENSP00000448828.1:p.Asn111Ile
ENST00000548803.5:c.332A>T	ENSP00000447732.1:p.Asn111Ile
ENST00000549233.2:c.341A>T	ENSP00000448871.1:p.Asn114Ile
ENST00000549413.1:n.342A>T
ENST00000549418.5:c.332A>T	ENSP00000446633.1:p.Asn111Ile
ENST00000549430.5:n.288A>T
ENST00000550447.5:c.221A>T	ENSP00000448029.1:p.Asn74Ile
ENST00000550464.5:c.77-2712A>T	ENSP00000450036.1:n.77-2712A>T
ENST00000550590.5:n.363A>T
ENST00000552882.5:c.332A>T	ENSP00000449690.1:p.Asn111Ile
XM_006719569.1:c.332A>T	XP_006719632.1:p.Asn111Ile
XM_011538685.1:c.332A>T	XP_011536987.1:p.Asn111Ile
XM_011538686.1:c.332A>T	XP_011536988.1:p.Asn111Ile
XM_011538687.1:c.332A>T	XP_011536989.1:p.Asn111Ile