Canonical Allele Identifier: CA385214839

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56348125A>T (hg19) ; chr12:g.55954341A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954341A>T , CM000674.2:g.55954341A>T	GRCh38
NC_000012.11:g.56348125A>T , CM000674.1:g.56348125A>T	GRCh37
NC_000012.10:g.54634392A>T	NCBI36
NG_028086.1:g.17372T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1859T>A MANE Select	ENSP00000448828.1:p.Leu620His
ENST00000449260.6:c.1880T>A	ENSP00000402758.2:p.Leu627His
ENST00000548493.5:c.1859T>A	ENSP00000447374.1:p.Leu620His
ENST00000548747.5:c.1859T>A	ENSP00000448828.1:p.Leu620His
ENST00000549564.1:n.438T>A
ENST00000550447.5:c.746T>A	ENSP00000448029.1:p.Leu249His
ENST00000550464.5:c.1601T>A	ENSP00000450036.1:p.Leu534His
ENST00000552882.5:c.1859T>A	ENSP00000449690.1:p.Leu620His
NM_001200053.1:c.1601T>A	NP_001186982.1:p.Leu534His
NM_001200054.1:c.1880T>A	NP_001186983.1:p.Leu627His
NM_006928.4:c.1859T>A	NP_008859.1:p.Leu620His
XM_006719569.1:c.1859T>A	XP_006719632.1:p.Leu620His
XM_011538685.1:c.1880T>A	XP_011536987.1:p.Leu627His
XM_011538686.1:c.1754T>A	XP_011536988.1:p.Leu585His
XM_011538687.1:c.1733T>A	XP_011536989.1:p.Leu578His
NM_001320121.1:c.1754T>A	NP_001307050.1:p.Leu585His
NM_001320122.1:c.1733T>A	NP_001307051.1:p.Leu578His
NM_001384361.1:c.1859T>A MANE Select	NP_001371290.1:p.Leu620His
NM_006928.5:c.1859T>A	NP_008859.1:p.Leu620His