Canonical Allele Identifier: CA385216755

Gene: PMEL

Linked Data

• dbSNP Id: rs1485732314
• gnomAD v2: 12-56350823-C-T
• gnomAD v4: 12-55957039-C-T
• MyVariant Identifiers: chr12:g.56350823C>T (hg19) ; chr12:g.55957039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957039C>T , CM000674.2:g.55957039C>T	GRCh38
NC_000012.11:g.56350823C>T , CM000674.1:g.56350823C>T	GRCh37
NC_000012.10:g.54637090C>T	NCBI36
NG_028086.1:g.14674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1264G>A MANE Select	ENSP00000448828.1:p.Glu422Lys
ENST00000449260.6:c.1264G>A	ENSP00000402758.2:p.Glu422Lys
ENST00000548493.5:c.1264G>A	ENSP00000447374.1:p.Glu422Lys
ENST00000548747.5:c.1264G>A	ENSP00000448828.1:p.Glu422Lys
ENST00000548803.5:c.691G>A	ENSP00000447732.1:p.Glu231Lys
ENST00000549404.5:c.800G>A
ENST00000549564.1:n.235+69G>A
ENST00000550447.5:c.359-1176G>A	ENSP00000448029.1:n.359-1176G>A
ENST00000550464.5:c.1006G>A	ENSP00000450036.1:p.Glu336Lys
ENST00000552882.5:c.1264G>A	ENSP00000449690.1:p.Glu422Lys
NM_001200053.1:c.1006G>A	NP_001186982.1:p.Glu336Lys
NM_001200054.1:c.1264G>A	NP_001186983.1:p.Glu422Lys
NM_006928.4:c.1264G>A	NP_008859.1:p.Glu422Lys
XM_006719569.1:c.1264G>A	XP_006719632.1:p.Glu422Lys
XM_011538685.1:c.1264G>A	XP_011536987.1:p.Glu422Lys
XM_011538686.1:c.1138G>A	XP_011536988.1:p.Glu380Lys
XM_011538687.1:c.1138G>A	XP_011536989.1:p.Glu380Lys
NM_001320121.1:c.1138G>A	NP_001307050.1:p.Glu380Lys
NM_001320122.1:c.1138G>A	NP_001307051.1:p.Glu380Lys
NM_001384361.1:c.1264G>A MANE Select	NP_001371290.1:p.Glu422Lys
NM_006928.5:c.1264G>A	NP_008859.1:p.Glu422Lys