Canonical Allele Identifier: CA385216929

Gene: PMEL

Linked Data

• dbSNP Id: rs1888912764
• gnomAD v4: 12-55957091-C-G
• MyVariant Identifiers: chr12:g.56350875C>G (hg19) ; chr12:g.55957091C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957091C>G , CM000674.2:g.55957091C>G	GRCh38
NC_000012.11:g.56350875C>G , CM000674.1:g.56350875C>G	GRCh37
NC_000012.10:g.54637142C>G	NCBI36
NG_028086.1:g.14622G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1212G>C MANE Select	ENSP00000448828.1:p.Glu404Asp
ENST00000449260.6:c.1212G>C	ENSP00000402758.2:p.Glu404Asp
ENST00000548493.5:c.1212G>C	ENSP00000447374.1:p.Glu404Asp
ENST00000548747.5:c.1212G>C	ENSP00000448828.1:p.Glu404Asp
ENST00000548803.5:c.671-32G>C	ENSP00000447732.1:n.671-32G>C
ENST00000549404.5:c.780-32G>C
ENST00000549564.1:n.235+17G>C
ENST00000550447.5:c.359-1228G>C	ENSP00000448029.1:n.359-1228G>C
ENST00000550464.5:c.954G>C	ENSP00000450036.1:p.Glu318Asp
ENST00000552882.5:c.1212G>C	ENSP00000449690.1:p.Glu404Asp
NM_001200053.1:c.954G>C	NP_001186982.1:p.Glu318Asp
NM_001200054.1:c.1212G>C	NP_001186983.1:p.Glu404Asp
NM_006928.4:c.1212G>C	NP_008859.1:p.Glu404Asp
XM_006719569.1:c.1212G>C	XP_006719632.1:p.Glu404Asp
XM_011538685.1:c.1212G>C	XP_011536987.1:p.Glu404Asp
XM_011538686.1:c.1118-32G>C	XP_011536988.1:n.1118-32G>C
XM_011538687.1:c.1118-32G>C	XP_011536989.1:n.1118-32G>C
NM_001320121.1:c.1118-32G>C	NP_001307050.1:n.1118-32G>C
NM_001320122.1:c.1118-32G>C	NP_001307051.1:n.1118-32G>C
NM_001384361.1:c.1212G>C MANE Select	NP_001371290.1:p.Glu404Asp
NM_006928.5:c.1212G>C	NP_008859.1:p.Glu404Asp