Canonical Allele Identifier: CA6619822

Gene: PMEL

Linked Data

• ClinVar Variation Id: 3215793
• ClinVar RCV Id: RCV004509589
• dbSNP Id: rs746019205
• ExAC: 12:56348131 C / T
• gnomAD v2: 12-56348131-C-T
• gnomAD v3: 12-55954347-C-T
• gnomAD v4: 12-55954347-C-T
• COSMIC: COSM1935182 ; COSM4209271
• MyVariant Identifiers: chr12:g.56348131C>T (hg19) ; chr12:g.55954347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954347C>T , CM000674.2:g.55954347C>T	GRCh38
NC_000012.11:g.56348131C>T , CM000674.1:g.56348131C>T	GRCh37
NC_000012.10:g.54634398C>T	NCBI36
NG_028086.1:g.17366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1853G>A MANE Select	ENSP00000448828.1:p.Arg618His
ENST00000449260.6:c.1874G>A	ENSP00000402758.2:p.Arg625His
ENST00000548493.5:c.1853G>A	ENSP00000447374.1:p.Arg618His
ENST00000548747.5:c.1853G>A	ENSP00000448828.1:p.Arg618His
ENST00000549564.1:n.432G>A
ENST00000550447.5:c.740G>A	ENSP00000448029.1:p.Arg247His
ENST00000550464.5:c.1595G>A	ENSP00000450036.1:p.Arg532His
ENST00000552882.5:c.1853G>A	ENSP00000449690.1:p.Arg618His
NM_001200053.1:c.1595G>A	NP_001186982.1:p.Arg532His
NM_001200054.1:c.1874G>A	NP_001186983.1:p.Arg625His
NM_006928.4:c.1853G>A	NP_008859.1:p.Arg618His
XM_006719569.1:c.1853G>A	XP_006719632.1:p.Arg618His
XM_011538685.1:c.1874G>A	XP_011536987.1:p.Arg625His
XM_011538686.1:c.1748G>A	XP_011536988.1:p.Arg583His
XM_011538687.1:c.1727G>A	XP_011536989.1:p.Arg576His
NM_001320121.1:c.1748G>A	NP_001307050.1:p.Arg583His
NM_001320122.1:c.1727G>A	NP_001307051.1:p.Arg576His
NM_001384361.1:c.1853G>A MANE Select	NP_001371290.1:p.Arg618His
NM_006928.5:c.1853G>A	NP_008859.1:p.Arg618His