Canonical Allele Identifier: CA385217613

Gene: PMEL

Linked Data

• dbSNP Id: rs1207557187
• gnomAD v2: 12-56351077-G-C
• gnomAD v4: 12-55957293-G-C
• MyVariant Identifiers: chr12:g.56351077G>C (hg19) ; chr12:g.55957293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957293G>C , CM000674.2:g.55957293G>C	GRCh38
NC_000012.11:g.56351077G>C , CM000674.1:g.56351077G>C	GRCh37
NC_000012.10:g.54637344G>C	NCBI36
NG_028086.1:g.14420C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1010C>G MANE Select	ENSP00000448828.1:p.Pro337Arg
ENST00000449260.6:c.1010C>G	ENSP00000402758.2:p.Pro337Arg
ENST00000546543.5:c.863C>G	ENSP00000446662.1:p.Pro288Arg
ENST00000547137.5:c.848C>G	ENSP00000448849.1:p.Pro283Arg
ENST00000548493.5:c.1010C>G	ENSP00000447374.1:p.Pro337Arg
ENST00000548747.5:c.1010C>G	ENSP00000448828.1:p.Pro337Arg
ENST00000548803.5:c.563C>G	ENSP00000447732.1:p.Pro188Arg
ENST00000549404.5:c.672C>G
ENST00000549564.1:n.50C>G
ENST00000550447.5:c.358+1180C>G	ENSP00000448029.1:n.358+1180C>G
ENST00000550464.5:c.752C>G	ENSP00000450036.1:p.Pro251Arg
ENST00000552882.5:c.1010C>G	ENSP00000449690.1:p.Pro337Arg
ENST00000556802.1:n.746C>G
NM_001200053.1:c.752C>G	NP_001186982.1:p.Pro251Arg
NM_001200054.1:c.1010C>G	NP_001186983.1:p.Pro337Arg
NM_006928.4:c.1010C>G	NP_008859.1:p.Pro337Arg
XM_006719569.1:c.1010C>G	XP_006719632.1:p.Pro337Arg
XM_011538685.1:c.1010C>G	XP_011536987.1:p.Pro337Arg
XM_011538686.1:c.1010C>G	XP_011536988.1:p.Pro337Arg
XM_011538687.1:c.1010C>G	XP_011536989.1:p.Pro337Arg
NM_001320121.1:c.1010C>G	NP_001307050.1:p.Pro337Arg
NM_001320122.1:c.1010C>G	NP_001307051.1:p.Pro337Arg
NM_001384361.1:c.1010C>G MANE Select	NP_001371290.1:p.Pro337Arg
NM_006928.5:c.1010C>G	NP_008859.1:p.Pro337Arg