Canonical Allele Identifier: CA480364846

Gene: PMEL

Linked Data

• gnomAD v4: 12-55957112-A-C
• MyVariant Identifiers: chr12:g.56350896A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957112A>C , CM000674.2:g.55957112A>C	GRCh38
NC_000012.11:g.56350896A>C , CM000674.1:g.56350896A>C	GRCh37
NC_000012.10:g.54637163A>C	NCBI36
NG_028086.1:g.14601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1191T>G MANE Select	ENSP00000448828.1:p.Ala397=
ENST00000449260.6:c.1191T>G	ENSP00000402758.2:p.Ala397=
ENST00000547137.5:c.1029T>G	ENSP00000448849.1:p.Ala343=
ENST00000548493.5:c.1191T>G	ENSP00000447374.1:p.Ala397=
ENST00000548747.5:c.1191T>G	ENSP00000448828.1:p.Ala397=
ENST00000548803.5:c.671-53T>G	ENSP00000447732.1:n.671-53T>G
ENST00000549404.5:c.780-53T>G
ENST00000549564.1:n.231T>G
ENST00000550447.5:c.359-1249T>G	ENSP00000448029.1:n.359-1249T>G
ENST00000550464.5:c.933T>G	ENSP00000450036.1:p.Ala311=
ENST00000552882.5:c.1191T>G	ENSP00000449690.1:p.Ala397=
NM_001200053.1:c.933T>G	NP_001186982.1:p.Ala311=
NM_001200054.1:c.1191T>G	NP_001186983.1:p.Ala397=
NM_006928.4:c.1191T>G	NP_008859.1:p.Ala397=
XM_006719569.1:c.1191T>G	XP_006719632.1:p.Ala397=
XM_011538685.1:c.1191T>G	XP_011536987.1:p.Ala397=
XM_011538686.1:c.1118-53T>G	XP_011536988.1:n.1118-53T>G
XM_011538687.1:c.1118-53T>G	XP_011536989.1:n.1118-53T>G
NM_001320121.1:c.1118-53T>G	NP_001307050.1:n.1118-53T>G
NM_001320122.1:c.1118-53T>G	NP_001307051.1:n.1118-53T>G
NM_001384361.1:c.1191T>G MANE Select	NP_001371290.1:p.Ala397=
NM_006928.5:c.1191T>G	NP_008859.1:p.Ala397=