Canonical Allele Identifier: CA480364961

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56351106C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957322C>G , CM000674.2:g.55957322C>G	GRCh38
NC_000012.11:g.56351106C>G , CM000674.1:g.56351106C>G	GRCh37
NC_000012.10:g.54637373C>G	NCBI36
NG_028086.1:g.14391G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.981G>C MANE Select	ENSP00000448828.1:p.Val327=
ENST00000449260.6:c.981G>C	ENSP00000402758.2:p.Val327=
ENST00000546543.5:c.834G>C	ENSP00000446662.1:p.Val278=
ENST00000547137.5:c.819G>C	ENSP00000448849.1:p.Val273=
ENST00000548493.5:c.981G>C	ENSP00000447374.1:p.Val327=
ENST00000548747.5:c.981G>C	ENSP00000448828.1:p.Val327=
ENST00000548803.5:c.534G>C	ENSP00000447732.1:p.Val178=
ENST00000549404.5:c.643G>C
ENST00000549564.1:n.21G>C
ENST00000550447.5:c.358+1151G>C	ENSP00000448029.1:n.358+1151G>C
ENST00000550464.5:c.723G>C	ENSP00000450036.1:p.Val241=
ENST00000552882.5:c.981G>C	ENSP00000449690.1:p.Val327=
ENST00000556802.1:n.717G>C
NM_001200053.1:c.723G>C	NP_001186982.1:p.Val241=
NM_001200054.1:c.981G>C	NP_001186983.1:p.Val327=
NM_006928.4:c.981G>C	NP_008859.1:p.Val327=
XM_006719569.1:c.981G>C	XP_006719632.1:p.Val327=
XM_011538685.1:c.981G>C	XP_011536987.1:p.Val327=
XM_011538686.1:c.981G>C	XP_011536988.1:p.Val327=
XM_011538687.1:c.981G>C	XP_011536989.1:p.Val327=
NM_001320121.1:c.981G>C	NP_001307050.1:p.Val327=
NM_001320122.1:c.981G>C	NP_001307051.1:p.Val327=
NM_001384361.1:c.981G>C MANE Select	NP_001371290.1:p.Val327=
NM_006928.5:c.981G>C	NP_008859.1:p.Val327=