Canonical Allele Identifier: CA6620044

Gene: PMEL

Linked Data

• ClinVar Variation Id: 2406682
• ClinVar RCV Id: RCV004239855
• dbSNP Id: rs752631988
• ExAC: 12:56350825 G / C
• gnomAD v2: 12-56350825-G-C
• gnomAD v3: 12-55957041-G-C
• gnomAD v4: 12-55957041-G-C
• MyVariant Identifiers: chr12:g.56350825G>C (hg19) ; chr12:g.55957041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957041G>C , CM000674.2:g.55957041G>C	GRCh38
NC_000012.11:g.56350825G>C , CM000674.1:g.56350825G>C	GRCh37
NC_000012.10:g.54637092G>C	NCBI36
NG_028086.1:g.14672C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1262C>G MANE Select	ENSP00000448828.1:p.Thr421Arg
ENST00000449260.6:c.1262C>G	ENSP00000402758.2:p.Thr421Arg
ENST00000548493.5:c.1262C>G	ENSP00000447374.1:p.Thr421Arg
ENST00000548747.5:c.1262C>G	ENSP00000448828.1:p.Thr421Arg
ENST00000548803.5:c.689C>G	ENSP00000447732.1:p.Thr230Arg
ENST00000549404.5:c.798C>G
ENST00000549564.1:n.235+67C>G
ENST00000550447.5:c.359-1178C>G	ENSP00000448029.1:n.359-1178C>G
ENST00000550464.5:c.1004C>G	ENSP00000450036.1:p.Thr335Arg
ENST00000552882.5:c.1262C>G	ENSP00000449690.1:p.Thr421Arg
NM_001200053.1:c.1004C>G	NP_001186982.1:p.Thr335Arg
NM_001200054.1:c.1262C>G	NP_001186983.1:p.Thr421Arg
NM_006928.4:c.1262C>G	NP_008859.1:p.Thr421Arg
XM_006719569.1:c.1262C>G	XP_006719632.1:p.Thr421Arg
XM_011538685.1:c.1262C>G	XP_011536987.1:p.Thr421Arg
XM_011538686.1:c.1136C>G	XP_011536988.1:p.Thr379Arg
XM_011538687.1:c.1136C>G	XP_011536989.1:p.Thr379Arg
NM_001320121.1:c.1136C>G	NP_001307050.1:p.Thr379Arg
NM_001320122.1:c.1136C>G	NP_001307051.1:p.Thr379Arg
NM_001384361.1:c.1262C>G MANE Select	NP_001371290.1:p.Thr421Arg
NM_006928.5:c.1262C>G	NP_008859.1:p.Thr421Arg