Canonical Allele Identifier: CA385217337

Gene: PMEL

Linked Data

• dbSNP Id: rs1208495073
• gnomAD v2: 12-56350993-T-C
• gnomAD v4: 12-55957209-T-C
• MyVariant Identifiers: chr12:g.56350993T>C (hg19) ; chr12:g.55957209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957209T>C , CM000674.2:g.55957209T>C	GRCh38
NC_000012.11:g.56350993T>C , CM000674.1:g.56350993T>C	GRCh37
NC_000012.10:g.54637260T>C	NCBI36
NG_028086.1:g.14504A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1094A>G MANE Select	ENSP00000448828.1:p.Gln365Arg
ENST00000449260.6:c.1094A>G	ENSP00000402758.2:p.Gln365Arg
ENST00000547137.5:c.932A>G	ENSP00000448849.1:p.Gln311Arg
ENST00000548493.5:c.1094A>G	ENSP00000447374.1:p.Gln365Arg
ENST00000548747.5:c.1094A>G	ENSP00000448828.1:p.Gln365Arg
ENST00000548803.5:c.647A>G	ENSP00000447732.1:p.Gln216Arg
ENST00000549404.5:c.756A>G
ENST00000549564.1:n.134A>G
ENST00000550447.5:c.358+1264A>G	ENSP00000448029.1:n.358+1264A>G
ENST00000550464.5:c.836A>G	ENSP00000450036.1:p.Gln279Arg
ENST00000552882.5:c.1094A>G	ENSP00000449690.1:p.Gln365Arg
NM_001200053.1:c.836A>G	NP_001186982.1:p.Gln279Arg
NM_001200054.1:c.1094A>G	NP_001186983.1:p.Gln365Arg
NM_006928.4:c.1094A>G	NP_008859.1:p.Gln365Arg
XM_006719569.1:c.1094A>G	XP_006719632.1:p.Gln365Arg
XM_011538685.1:c.1094A>G	XP_011536987.1:p.Gln365Arg
XM_011538686.1:c.1094A>G	XP_011536988.1:p.Gln365Arg
XM_011538687.1:c.1094A>G	XP_011536989.1:p.Gln365Arg
NM_001320121.1:c.1094A>G	NP_001307050.1:p.Gln365Arg
NM_001320122.1:c.1094A>G	NP_001307051.1:p.Gln365Arg
NM_001384361.1:c.1094A>G MANE Select	NP_001371290.1:p.Gln365Arg
NM_006928.5:c.1094A>G	NP_008859.1:p.Gln365Arg