Canonical Allele Identifier: CA385214570

Gene: PMEL

Linked Data

• dbSNP Id: rs1888726070
• MyVariant Identifiers: chr12:g.56348003C>A (hg19) ; chr12:g.55954219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954219C>A , CM000674.2:g.55954219C>A	GRCh38
NC_000012.11:g.56348003C>A , CM000674.1:g.56348003C>A	GRCh37
NC_000012.10:g.54634270C>A	NCBI36
NG_028086.1:g.17494G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1981G>T MANE Select	ENSP00000448828.1:p.Val661Phe
ENST00000449260.6:c.2002G>T	ENSP00000402758.2:p.Val668Phe
ENST00000548493.5:c.1981G>T	ENSP00000447374.1:p.Val661Phe
ENST00000548747.5:c.1981G>T	ENSP00000448828.1:p.Val661Phe
ENST00000550447.5:c.868G>T	ENSP00000448029.1:p.Val290Phe
ENST00000550464.5:c.1723G>T	ENSP00000450036.1:p.Val575Phe
ENST00000552882.5:c.1981G>T	ENSP00000449690.1:p.Val661Phe
NM_001200053.1:c.1723G>T	NP_001186982.1:p.Val575Phe
NM_001200054.1:c.2002G>T	NP_001186983.1:p.Val668Phe
NM_006928.4:c.1981G>T	NP_008859.1:p.Val661Phe
XM_006719569.1:c.1981G>T	XP_006719632.1:p.Val661Phe
XM_011538685.1:c.2002G>T	XP_011536987.1:p.Val668Phe
XM_011538686.1:c.1876G>T	XP_011536988.1:p.Val626Phe
XM_011538687.1:c.1855G>T	XP_011536989.1:p.Val619Phe
NM_001320121.1:c.1876G>T	NP_001307050.1:p.Val626Phe
NM_001320122.1:c.1855G>T	NP_001307051.1:p.Val619Phe
NM_001384361.1:c.1981G>T MANE Select	NP_001371290.1:p.Val661Phe
NM_006928.5:c.1981G>T	NP_008859.1:p.Val661Phe