Canonical Allele Identifier: CA237591030

Gene: PMEL

Linked Data

• dbSNP Id: rs143133115
• gnomAD v2: 12-56351098-G-A
• gnomAD v4: 12-55957314-G-A
• MyVariant Identifiers: chr12:g.56351098G>A (hg19) ; chr12:g.55957314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957314G>A , CM000674.2:g.55957314G>A	GRCh38
NC_000012.11:g.56351098G>A , CM000674.1:g.56351098G>A	GRCh37
NC_000012.10:g.54637365G>A	NCBI36
NG_028086.1:g.14399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.989C>T MANE Select	ENSP00000448828.1:p.Thr330Ile
ENST00000449260.6:c.989C>T	ENSP00000402758.2:p.Thr330Ile
ENST00000546543.5:c.842C>T	ENSP00000446662.1:p.Thr281Ile
ENST00000547137.5:c.827C>T	ENSP00000448849.1:p.Thr276Ile
ENST00000548493.5:c.989C>T	ENSP00000447374.1:p.Thr330Ile
ENST00000548747.5:c.989C>T	ENSP00000448828.1:p.Thr330Ile
ENST00000548803.5:c.542C>T	ENSP00000447732.1:p.Thr181Ile
ENST00000549404.5:c.651C>T
ENST00000549564.1:n.29C>T
ENST00000550447.5:c.358+1159C>T	ENSP00000448029.1:n.358+1159C>T
ENST00000550464.5:c.731C>T	ENSP00000450036.1:p.Thr244Ile
ENST00000552882.5:c.989C>T	ENSP00000449690.1:p.Thr330Ile
ENST00000556802.1:n.725C>T
NM_001200053.1:c.731C>T	NP_001186982.1:p.Thr244Ile
NM_001200054.1:c.989C>T	NP_001186983.1:p.Thr330Ile
NM_006928.4:c.989C>T	NP_008859.1:p.Thr330Ile
XM_006719569.1:c.989C>T	XP_006719632.1:p.Thr330Ile
XM_011538685.1:c.989C>T	XP_011536987.1:p.Thr330Ile
XM_011538686.1:c.989C>T	XP_011536988.1:p.Thr330Ile
XM_011538687.1:c.989C>T	XP_011536989.1:p.Thr330Ile
NM_001320121.1:c.989C>T	NP_001307050.1:p.Thr330Ile
NM_001320122.1:c.989C>T	NP_001307051.1:p.Thr330Ile
NM_001384361.1:c.989C>T MANE Select	NP_001371290.1:p.Thr330Ile
NM_006928.5:c.989C>T	NP_008859.1:p.Thr330Ile