Canonical Allele Identifier: CA385214589

Gene: PMEL

Linked Data

• gnomAD v4: 12-55954227-C-T
• MyVariant Identifiers: chr12:g.56348011C>T (hg19) ; chr12:g.55954227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954227C>T , CM000674.2:g.55954227C>T	GRCh38
NC_000012.11:g.56348011C>T , CM000674.1:g.56348011C>T	GRCh37
NC_000012.10:g.54634278C>T	NCBI36
NG_028086.1:g.17486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1973G>A MANE Select	ENSP00000448828.1:p.Gly658Glu
ENST00000449260.6:c.1994G>A	ENSP00000402758.2:p.Gly665Glu
ENST00000548493.5:c.1973G>A	ENSP00000447374.1:p.Gly658Glu
ENST00000548747.5:c.1973G>A	ENSP00000448828.1:p.Gly658Glu
ENST00000550447.5:c.860G>A	ENSP00000448029.1:p.Gly287Glu
ENST00000550464.5:c.1715G>A	ENSP00000450036.1:p.Gly572Glu
ENST00000552882.5:c.1973G>A	ENSP00000449690.1:p.Gly658Glu
NM_001200053.1:c.1715G>A	NP_001186982.1:p.Gly572Glu
NM_001200054.1:c.1994G>A	NP_001186983.1:p.Gly665Glu
NM_006928.4:c.1973G>A	NP_008859.1:p.Gly658Glu
XM_006719569.1:c.1973G>A	XP_006719632.1:p.Gly658Glu
XM_011538685.1:c.1994G>A	XP_011536987.1:p.Gly665Glu
XM_011538686.1:c.1868G>A	XP_011536988.1:p.Gly623Glu
XM_011538687.1:c.1847G>A	XP_011536989.1:p.Gly616Glu
NM_001320121.1:c.1868G>A	NP_001307050.1:p.Gly623Glu
NM_001320122.1:c.1847G>A	NP_001307051.1:p.Gly616Glu
NM_001384361.1:c.1973G>A MANE Select	NP_001371290.1:p.Gly658Glu
NM_006928.5:c.1973G>A	NP_008859.1:p.Gly658Glu