Canonical Allele Identifier: CA480364954

Gene: PMEL

Linked Data

• dbSNP Id: rs1267515879
• gnomAD v3: 12-55957316-A-G
• gnomAD v4: 12-55957316-A-G
• MyVariant Identifiers: chr12:g.56351100A>G (hg19) ; chr12:g.55957316A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957316A>G , CM000674.2:g.55957316A>G	GRCh38
NC_000012.11:g.56351100A>G , CM000674.1:g.56351100A>G	GRCh37
NC_000012.10:g.54637367A>G	NCBI36
NG_028086.1:g.14397T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.987T>C MANE Select	ENSP00000448828.1:p.Thr329=
ENST00000449260.6:c.987T>C	ENSP00000402758.2:p.Thr329=
ENST00000546543.5:c.840T>C	ENSP00000446662.1:p.Thr280=
ENST00000547137.5:c.825T>C	ENSP00000448849.1:p.Thr275=
ENST00000548493.5:c.987T>C	ENSP00000447374.1:p.Thr329=
ENST00000548747.5:c.987T>C	ENSP00000448828.1:p.Thr329=
ENST00000548803.5:c.540T>C	ENSP00000447732.1:p.Thr180=
ENST00000549404.5:c.649T>C
ENST00000549564.1:n.27T>C
ENST00000550447.5:c.358+1157T>C	ENSP00000448029.1:n.358+1157T>C
ENST00000550464.5:c.729T>C	ENSP00000450036.1:p.Thr243=
ENST00000552882.5:c.987T>C	ENSP00000449690.1:p.Thr329=
ENST00000556802.1:n.723T>C
NM_001200053.1:c.729T>C	NP_001186982.1:p.Thr243=
NM_001200054.1:c.987T>C	NP_001186983.1:p.Thr329=
NM_006928.4:c.987T>C	NP_008859.1:p.Thr329=
XM_006719569.1:c.987T>C	XP_006719632.1:p.Thr329=
XM_011538685.1:c.987T>C	XP_011536987.1:p.Thr329=
XM_011538686.1:c.987T>C	XP_011536988.1:p.Thr329=
XM_011538687.1:c.987T>C	XP_011536989.1:p.Thr329=
NM_001320121.1:c.987T>C	NP_001307050.1:p.Thr329=
NM_001320122.1:c.987T>C	NP_001307051.1:p.Thr329=
NM_001384361.1:c.987T>C MANE Select	NP_001371290.1:p.Thr329=
NM_006928.5:c.987T>C	NP_008859.1:p.Thr329=