Canonical Allele Identifier: CA385216812

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56350840G>T (hg19) ; chr12:g.55957056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957056G>T , CM000674.2:g.55957056G>T	GRCh38
NC_000012.11:g.56350840G>T , CM000674.1:g.56350840G>T	GRCh37
NC_000012.10:g.54637107G>T	NCBI36
NG_028086.1:g.14657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1247C>A MANE Select	ENSP00000448828.1:p.Ala416Glu
ENST00000449260.6:c.1247C>A	ENSP00000402758.2:p.Ala416Glu
ENST00000548493.5:c.1247C>A	ENSP00000447374.1:p.Ala416Glu
ENST00000548747.5:c.1247C>A	ENSP00000448828.1:p.Ala416Glu
ENST00000548803.5:c.674C>A	ENSP00000447732.1:p.Ala225Glu
ENST00000549404.5:c.783C>A
ENST00000549564.1:n.235+52C>A
ENST00000550447.5:c.359-1193C>A	ENSP00000448029.1:n.359-1193C>A
ENST00000550464.5:c.989C>A	ENSP00000450036.1:p.Ala330Glu
ENST00000552882.5:c.1247C>A	ENSP00000449690.1:p.Ala416Glu
NM_001200053.1:c.989C>A	NP_001186982.1:p.Ala330Glu
NM_001200054.1:c.1247C>A	NP_001186983.1:p.Ala416Glu
NM_006928.4:c.1247C>A	NP_008859.1:p.Ala416Glu
XM_006719569.1:c.1247C>A	XP_006719632.1:p.Ala416Glu
XM_011538685.1:c.1247C>A	XP_011536987.1:p.Ala416Glu
XM_011538686.1:c.1121C>A	XP_011536988.1:p.Ala374Glu
XM_011538687.1:c.1121C>A	XP_011536989.1:p.Ala374Glu
NM_001320121.1:c.1121C>A	NP_001307050.1:p.Ala374Glu
NM_001320122.1:c.1121C>A	NP_001307051.1:p.Ala374Glu
NM_001384361.1:c.1247C>A MANE Select	NP_001371290.1:p.Ala416Glu
NM_006928.5:c.1247C>A	NP_008859.1:p.Ala416Glu