Canonical Allele Identifier: CA385214568
Gene: PMEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55954218A>G , CM000674.2:g.55954218A>G GRCh38
NC_000012.11:g.56348002A>G , CM000674.1:g.56348002A>G GRCh37
NC_000012.10:g.54634269A>G NCBI36
NG_028086.1:g.17495T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000548747.6:c.1982T>C MANE Select ENSP00000448828.1:p.Val661Ala
ENST00000449260.6:c.2003T>C ENSP00000402758.2:p.Val668Ala
ENST00000548493.5:c.1982T>C ENSP00000447374.1:p.Val661Ala
ENST00000548747.5:c.1982T>C ENSP00000448828.1:p.Val661Ala
ENST00000550447.5:c.869T>C ENSP00000448029.1:p.Val290Ala
ENST00000550464.5:c.1724T>C ENSP00000450036.1:p.Val575Ala
ENST00000552882.5:c.1982T>C ENSP00000449690.1:p.Val661Ala
NM_001200053.1:c.1724T>C NP_001186982.1:p.Val575Ala
NM_001200054.1:c.2003T>C NP_001186983.1:p.Val668Ala
NM_006928.4:c.1982T>C NP_008859.1:p.Val661Ala
XM_006719569.1:c.1982T>C XP_006719632.1:p.Val661Ala
XM_011538685.1:c.2003T>C XP_011536987.1:p.Val668Ala
XM_011538686.1:c.1877T>C XP_011536988.1:p.Val626Ala
XM_011538687.1:c.1856T>C XP_011536989.1:p.Val619Ala
NM_001320121.1:c.1877T>C NP_001307050.1:p.Val626Ala
NM_001320122.1:c.1856T>C NP_001307051.1:p.Val619Ala
NM_001384361.1:c.1982T>C MANE Select NP_001371290.1:p.Val661Ala
NM_006928.5:c.1982T>C NP_008859.1:p.Val661Ala