Canonical Allele Identifier: CA2038181512

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957329C= , CM000674.2:g.55957329C=	GRCh38
NC_000012.11:g.56351113C= , CM000674.1:g.56351113C=	GRCh37
NC_000012.10:g.54637380C=	NCBI36
NG_028086.1:g.14384G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001384361.1:c.974G= MANE Select	NP_001371290.1:p.Gly325=
ENST00000548747.6:c.974G= MANE Select	ENSP00000448828.1:p.Gly325=
NM_001200053.1:c.716G=	NP_001186982.1:p.Gly239=
NM_001200054.1:c.974G=	NP_001186983.1:p.Gly325=
NM_001320121.1:c.974G=	NP_001307050.1:p.Gly325=
NM_001320122.1:c.974G=	NP_001307051.1:p.Gly325=
NM_006928.4:c.974G=	NP_008859.1:p.Gly325=
NM_006928.5:c.974G=	NP_008859.1:p.Gly325=
ENST00000449260.6:c.974G=	ENSP00000402758.2:p.Gly325=
ENST00000546543.5:c.827G=	ENSP00000446662.1:p.Gly276=
ENST00000547137.5:c.812G=	ENSP00000448849.1:p.Gly271=
ENST00000548493.5:c.974G=	ENSP00000447374.1:p.Gly325=
ENST00000548747.5:c.974G=	ENSP00000448828.1:p.Gly325=
ENST00000548803.5:c.527G=	ENSP00000447732.1:p.Gly176=
ENST00000549404.5:c.636G=
ENST00000549564.1:n.14G=
ENST00000550447.5:c.358+1144G=	ENSP00000448029.1:n.358+1144G=
ENST00000550464.5:c.716G=	ENSP00000450036.1:p.Gly239=
ENST00000552882.5:c.974G=	ENSP00000449690.1:p.Gly325=
ENST00000556802.1:n.710G=
XM_006719569.1:c.974G=	XP_006719632.1:p.Gly325=
XM_011538685.1:c.974G=	XP_011536987.1:p.Gly325=
XM_011538686.1:c.974G=	XP_011536988.1:p.Gly325=
XM_011538687.1:c.974G=	XP_011536989.1:p.Gly325=