Canonical Allele Identifier: CA385217708

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56351107A>T (hg19) ; chr12:g.55957323A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957323A>T , CM000674.2:g.55957323A>T	GRCh38
NC_000012.11:g.56351107A>T , CM000674.1:g.56351107A>T	GRCh37
NC_000012.10:g.54637374A>T	NCBI36
NG_028086.1:g.14390T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.980T>A MANE Select	ENSP00000448828.1:p.Val327Glu
ENST00000449260.6:c.980T>A	ENSP00000402758.2:p.Val327Glu
ENST00000546543.5:c.833T>A	ENSP00000446662.1:p.Val278Glu
ENST00000547137.5:c.818T>A	ENSP00000448849.1:p.Val273Glu
ENST00000548493.5:c.980T>A	ENSP00000447374.1:p.Val327Glu
ENST00000548747.5:c.980T>A	ENSP00000448828.1:p.Val327Glu
ENST00000548803.5:c.533T>A	ENSP00000447732.1:p.Val178Glu
ENST00000549404.5:c.642T>A
ENST00000549564.1:n.20T>A
ENST00000550447.5:c.358+1150T>A	ENSP00000448029.1:n.358+1150T>A
ENST00000550464.5:c.722T>A	ENSP00000450036.1:p.Val241Glu
ENST00000552882.5:c.980T>A	ENSP00000449690.1:p.Val327Glu
ENST00000556802.1:n.716T>A
NM_001200053.1:c.722T>A	NP_001186982.1:p.Val241Glu
NM_001200054.1:c.980T>A	NP_001186983.1:p.Val327Glu
NM_006928.4:c.980T>A	NP_008859.1:p.Val327Glu
XM_006719569.1:c.980T>A	XP_006719632.1:p.Val327Glu
XM_011538685.1:c.980T>A	XP_011536987.1:p.Val327Glu
XM_011538686.1:c.980T>A	XP_011536988.1:p.Val327Glu
XM_011538687.1:c.980T>A	XP_011536989.1:p.Val327Glu
NM_001320121.1:c.980T>A	NP_001307050.1:p.Val327Glu
NM_001320122.1:c.980T>A	NP_001307051.1:p.Val327Glu
NM_001384361.1:c.980T>A MANE Select	NP_001371290.1:p.Val327Glu
NM_006928.5:c.980T>A	NP_008859.1:p.Val327Glu