Canonical Allele Identifier: CA480178176
Gene: PMEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.56348001G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55954217G>A , CM000674.2:g.55954217G>A GRCh38
NC_000012.11:g.56348001G>A , CM000674.1:g.56348001G>A GRCh37
NC_000012.10:g.54634268G>A NCBI36
NG_028086.1:g.17496C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000548747.6:c.1983C>T MANE Select ENSP00000448828.1:p.Val661=
ENST00000449260.6:c.2004C>T ENSP00000402758.2:p.Val668=
ENST00000548493.5:c.1983C>T ENSP00000447374.1:p.Val661=
ENST00000548747.5:c.1983C>T ENSP00000448828.1:p.Val661=
ENST00000550447.5:c.870C>T ENSP00000448029.1:p.Val290=
ENST00000550464.5:c.1725C>T ENSP00000450036.1:p.Val575=
ENST00000552882.5:c.1983C>T ENSP00000449690.1:p.Val661=
NM_001200053.1:c.1725C>T NP_001186982.1:p.Val575=
NM_001200054.1:c.2004C>T NP_001186983.1:p.Val668=
NM_006928.4:c.1983C>T NP_008859.1:p.Val661=
XM_006719569.1:c.1983C>T XP_006719632.1:p.Val661=
XM_011538685.1:c.2004C>T XP_011536987.1:p.Val668=
XM_011538686.1:c.1878C>T XP_011536988.1:p.Val626=
XM_011538687.1:c.1857C>T XP_011536989.1:p.Val619=
NM_001320121.1:c.1878C>T NP_001307050.1:p.Val626=
NM_001320122.1:c.1857C>T NP_001307051.1:p.Val619=
NM_001384361.1:c.1983C>T MANE Select NP_001371290.1:p.Val661=
NM_006928.5:c.1983C>T NP_008859.1:p.Val661=