Canonical Allele Identifier: CA385214837
Gene: PMEL HGNC NCBI

Linked Data

dbSNP Id: rs1363262912

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55954339T>C , CM000674.2:g.55954339T>C GRCh38
NC_000012.11:g.56348123T>C , CM000674.1:g.56348123T>C GRCh37
NC_000012.10:g.54634390T>C NCBI36
NG_028086.1:g.17374A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000548747.6:c.1861A>G MANE Select ENSP00000448828.1:p.Met621Val
ENST00000449260.6:c.1882A>G ENSP00000402758.2:p.Met628Val
ENST00000548493.5:c.1861A>G ENSP00000447374.1:p.Met621Val
ENST00000548747.5:c.1861A>G ENSP00000448828.1:p.Met621Val
ENST00000549564.1:n.440A>G
ENST00000550447.5:c.748A>G ENSP00000448029.1:p.Met250Val
ENST00000550464.5:c.1603A>G ENSP00000450036.1:p.Met535Val
ENST00000552882.5:c.1861A>G ENSP00000449690.1:p.Met621Val
NM_001200053.1:c.1603A>G NP_001186982.1:p.Met535Val
NM_001200054.1:c.1882A>G NP_001186983.1:p.Met628Val
NM_006928.4:c.1861A>G NP_008859.1:p.Met621Val
XM_006719569.1:c.1861A>G XP_006719632.1:p.Met621Val
XM_011538685.1:c.1882A>G XP_011536987.1:p.Met628Val
XM_011538686.1:c.1756A>G XP_011536988.1:p.Met586Val
XM_011538687.1:c.1735A>G XP_011536989.1:p.Met579Val
NM_001320121.1:c.1756A>G NP_001307050.1:p.Met586Val
NM_001320122.1:c.1735A>G NP_001307051.1:p.Met579Val
NM_001384361.1:c.1861A>G MANE Select NP_001371290.1:p.Met621Val
NM_006928.5:c.1861A>G NP_008859.1:p.Met621Val