Canonical Allele Identifier: CA605248676
Gene: PMEL HGNC NCBI

Linked Data

dbSNP Id: rs1406032816

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55954177T>C , CM000674.2:g.55954177T>C GRCh38
NC_000012.11:g.56347961T>C , CM000674.1:g.56347961T>C GRCh37
NC_000012.10:g.54634228T>C NCBI36
NG_028086.1:g.17536A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000548747.6:c.*37A>G MANE Select ENSP00000448828.1:n.*37A>G
ENST00000449260.6:c.*37A>G ENSP00000402758.2:n.*37A>G
ENST00000548493.5:c.*37A>G ENSP00000447374.1:n.*37A>G
ENST00000548747.5:c.*37A>G ENSP00000448828.1:n.*37A>G
ENST00000550464.5:c.*37A>G ENSP00000450036.1:n.*37A>G
ENST00000552882.5:c.*37A>G ENSP00000449690.1:n.*37A>G
NM_001200053.1:c.*37A>G NP_001186982.1:n.*37A>G
NM_001200054.1:c.*37A>G NP_001186983.1:n.*37A>G
NM_006928.4:c.*37A>G NP_008859.1:n.*37A>G
XM_006719569.1:c.*37A>G XP_006719632.1:n.*37A>G
XM_011538685.1:c.*37A>G XP_011536987.1:n.*37A>G
XM_011538686.1:c.*37A>G XP_011536988.1:n.*37A>G
XM_011538687.1:c.*37A>G XP_011536989.1:n.*37A>G
NM_001320121.1:c.*37A>G NP_001307050.1:n.*37A>G
NM_001320122.1:c.*37A>G NP_001307051.1:n.*37A>G
NM_001384361.1:c.*37A>G MANE Select NP_001371290.1:n.*37A>G
NM_006928.5:c.*37A>G NP_008859.1:n.*37A>G