Canonical Allele Identifier: CA385217005

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56350897G>C (hg19) ; chr12:g.55957113G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957113G>C , CM000674.2:g.55957113G>C	GRCh38
NC_000012.11:g.56350897G>C , CM000674.1:g.56350897G>C	GRCh37
NC_000012.10:g.54637164G>C	NCBI36
NG_028086.1:g.14600C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1190C>G MANE Select	ENSP00000448828.1:p.Ala397Gly
ENST00000449260.6:c.1190C>G	ENSP00000402758.2:p.Ala397Gly
ENST00000547137.5:c.1028C>G	ENSP00000448849.1:p.Ala343Gly
ENST00000548493.5:c.1190C>G	ENSP00000447374.1:p.Ala397Gly
ENST00000548747.5:c.1190C>G	ENSP00000448828.1:p.Ala397Gly
ENST00000548803.5:c.671-54C>G	ENSP00000447732.1:n.671-54C>G
ENST00000549404.5:c.780-54C>G
ENST00000549564.1:n.230C>G
ENST00000550447.5:c.359-1250C>G	ENSP00000448029.1:n.359-1250C>G
ENST00000550464.5:c.932C>G	ENSP00000450036.1:p.Ala311Gly
ENST00000552882.5:c.1190C>G	ENSP00000449690.1:p.Ala397Gly
NM_001200053.1:c.932C>G	NP_001186982.1:p.Ala311Gly
NM_001200054.1:c.1190C>G	NP_001186983.1:p.Ala397Gly
NM_006928.4:c.1190C>G	NP_008859.1:p.Ala397Gly
XM_006719569.1:c.1190C>G	XP_006719632.1:p.Ala397Gly
XM_011538685.1:c.1190C>G	XP_011536987.1:p.Ala397Gly
XM_011538686.1:c.1118-54C>G	XP_011536988.1:n.1118-54C>G
XM_011538687.1:c.1118-54C>G	XP_011536989.1:n.1118-54C>G
NM_001320121.1:c.1118-54C>G	NP_001307050.1:n.1118-54C>G
NM_001320122.1:c.1118-54C>G	NP_001307051.1:n.1118-54C>G
NM_001384361.1:c.1190C>G MANE Select	NP_001371290.1:p.Ala397Gly
NM_006928.5:c.1190C>G	NP_008859.1:p.Ala397Gly