Canonical Allele Identifier: CA385217279
Gene: PMEL HGNC NCBI

Linked Data

COSMIC: COSM6278488 COSM6278489
MyVariant Identifiers: chr12:g.56350977C>A (hg19) chr12:g.55957193C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957193C>A , CM000674.2:g.55957193C>A GRCh38
NC_000012.11:g.56350977C>A , CM000674.1:g.56350977C>A GRCh37
NC_000012.10:g.54637244C>A NCBI36
NG_028086.1:g.14520G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000548747.6:c.1110G>T MANE Select ENSP00000448828.1:p.Glu370Asp
ENST00000449260.6:c.1110G>T ENSP00000402758.2:p.Glu370Asp
ENST00000547137.5:c.948G>T ENSP00000448849.1:p.Glu316Asp
ENST00000548493.5:c.1110G>T ENSP00000447374.1:p.Glu370Asp
ENST00000548747.5:c.1110G>T ENSP00000448828.1:p.Glu370Asp
ENST00000548803.5:c.663G>T ENSP00000447732.1:p.Glu221Asp
ENST00000549404.5:c.772G>T
ENST00000549564.1:n.150G>T
ENST00000550447.5:c.358+1280G>T ENSP00000448029.1:n.358+1280G>T
ENST00000550464.5:c.852G>T ENSP00000450036.1:p.Glu284Asp
ENST00000552882.5:c.1110G>T ENSP00000449690.1:p.Glu370Asp
NM_001200053.1:c.852G>T NP_001186982.1:p.Glu284Asp
NM_001200054.1:c.1110G>T NP_001186983.1:p.Glu370Asp
NM_006928.4:c.1110G>T NP_008859.1:p.Glu370Asp
XM_006719569.1:c.1110G>T XP_006719632.1:p.Glu370Asp
XM_011538685.1:c.1110G>T XP_011536987.1:p.Glu370Asp
XM_011538686.1:c.1110G>T XP_011536988.1:p.Glu370Asp
XM_011538687.1:c.1110G>T XP_011536989.1:p.Glu370Asp
NM_001320121.1:c.1110G>T NP_001307050.1:p.Glu370Asp
NM_001320122.1:c.1110G>T NP_001307051.1:p.Glu370Asp
NM_001384361.1:c.1110G>T MANE Select NP_001371290.1:p.Glu370Asp
NM_006928.5:c.1110G>T NP_008859.1:p.Glu370Asp
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