Canonical Allele Identifier: CA385214708

Gene: PMEL

Linked Data

• dbSNP Id: rs759900864
• gnomAD v4: 12-55954285-G-T
• MyVariant Identifiers: chr12:g.56348069G>T (hg19) ; chr12:g.55954285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954285G>T , CM000674.2:g.55954285G>T	GRCh38
NC_000012.11:g.56348069G>T , CM000674.1:g.56348069G>T	GRCh37
NC_000012.10:g.54634336G>T	NCBI36
NG_028086.1:g.17428C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1915C>A MANE Select	ENSP00000448828.1:p.Arg639Ser
ENST00000449260.6:c.1936C>A	ENSP00000402758.2:p.Arg646Ser
ENST00000548493.5:c.1915C>A	ENSP00000447374.1:p.Arg639Ser
ENST00000548747.5:c.1915C>A	ENSP00000448828.1:p.Arg639Ser
ENST00000549564.1:n.494C>A
ENST00000550447.5:c.802C>A	ENSP00000448029.1:p.Arg268Ser
ENST00000550464.5:c.1657C>A	ENSP00000450036.1:p.Arg553Ser
ENST00000552882.5:c.1915C>A	ENSP00000449690.1:p.Arg639Ser
NM_001200053.1:c.1657C>A	NP_001186982.1:p.Arg553Ser
NM_001200054.1:c.1936C>A	NP_001186983.1:p.Arg646Ser
NM_006928.4:c.1915C>A	NP_008859.1:p.Arg639Ser
XM_006719569.1:c.1915C>A	XP_006719632.1:p.Arg639Ser
XM_011538685.1:c.1936C>A	XP_011536987.1:p.Arg646Ser
XM_011538686.1:c.1810C>A	XP_011536988.1:p.Arg604Ser
XM_011538687.1:c.1789C>A	XP_011536989.1:p.Arg597Ser
NM_001320121.1:c.1810C>A	NP_001307050.1:p.Arg604Ser
NM_001320122.1:c.1789C>A	NP_001307051.1:p.Arg597Ser
NM_001384361.1:c.1915C>A MANE Select	NP_001371290.1:p.Arg639Ser
NM_006928.5:c.1915C>A	NP_008859.1:p.Arg639Ser