Canonical Allele Identifier: CA480365048
Gene: PMEL HGNC NCBI

Linked Data

dbSNP Id: rs1888917743
MyVariant Identifiers: chr12:g.56351001T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957217T>C , CM000674.2:g.55957217T>C GRCh38
NC_000012.11:g.56351001T>C , CM000674.1:g.56351001T>C GRCh37
NC_000012.10:g.54637268T>C NCBI36
NG_028086.1:g.14496A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000548747.6:c.1086A>G MANE Select ENSP00000448828.1:p.Ala362=
ENST00000449260.6:c.1086A>G ENSP00000402758.2:p.Ala362=
ENST00000547137.5:c.924A>G ENSP00000448849.1:p.Ala308=
ENST00000548493.5:c.1086A>G ENSP00000447374.1:p.Ala362=
ENST00000548747.5:c.1086A>G ENSP00000448828.1:p.Ala362=
ENST00000548803.5:c.639A>G ENSP00000447732.1:p.Ala213=
ENST00000549404.5:c.748A>G
ENST00000549564.1:n.126A>G
ENST00000550447.5:c.358+1256A>G ENSP00000448029.1:n.358+1256A>G
ENST00000550464.5:c.828A>G ENSP00000450036.1:p.Ala276=
ENST00000552882.5:c.1086A>G ENSP00000449690.1:p.Ala362=
NM_001200053.1:c.828A>G NP_001186982.1:p.Ala276=
NM_001200054.1:c.1086A>G NP_001186983.1:p.Ala362=
NM_006928.4:c.1086A>G NP_008859.1:p.Ala362=
XM_006719569.1:c.1086A>G XP_006719632.1:p.Ala362=
XM_011538685.1:c.1086A>G XP_011536987.1:p.Ala362=
XM_011538686.1:c.1086A>G XP_011536988.1:p.Ala362=
XM_011538687.1:c.1086A>G XP_011536989.1:p.Ala362=
NM_001320121.1:c.1086A>G NP_001307050.1:p.Ala362=
NM_001320122.1:c.1086A>G NP_001307051.1:p.Ala362=
NM_001384361.1:c.1086A>G MANE Select NP_001371290.1:p.Ala362=
NM_006928.5:c.1086A>G NP_008859.1:p.Ala362=