Canonical Allele Identifier: CA480178178

Gene: PMEL

Linked Data

• gnomAD v4: 12-55954217-G-C
• MyVariant Identifiers: chr12:g.56348001G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954217G>C , CM000674.2:g.55954217G>C	GRCh38
NC_000012.11:g.56348001G>C , CM000674.1:g.56348001G>C	GRCh37
NC_000012.10:g.54634268G>C	NCBI36
NG_028086.1:g.17496C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1983C>G MANE Select	ENSP00000448828.1:p.Val661=
ENST00000449260.6:c.2004C>G	ENSP00000402758.2:p.Val668=
ENST00000548493.5:c.1983C>G	ENSP00000447374.1:p.Val661=
ENST00000548747.5:c.1983C>G	ENSP00000448828.1:p.Val661=
ENST00000550447.5:c.870C>G	ENSP00000448029.1:p.Val290=
ENST00000550464.5:c.1725C>G	ENSP00000450036.1:p.Val575=
ENST00000552882.5:c.1983C>G	ENSP00000449690.1:p.Val661=
NM_001200053.1:c.1725C>G	NP_001186982.1:p.Val575=
NM_001200054.1:c.2004C>G	NP_001186983.1:p.Val668=
NM_006928.4:c.1983C>G	NP_008859.1:p.Val661=
XM_006719569.1:c.1983C>G	XP_006719632.1:p.Val661=
XM_011538685.1:c.2004C>G	XP_011536987.1:p.Val668=
XM_011538686.1:c.1878C>G	XP_011536988.1:p.Val626=
XM_011538687.1:c.1857C>G	XP_011536989.1:p.Val619=
NM_001320121.1:c.1878C>G	NP_001307050.1:p.Val626=
NM_001320122.1:c.1857C>G	NP_001307051.1:p.Val619=
NM_001384361.1:c.1983C>G MANE Select	NP_001371290.1:p.Val661=
NM_006928.5:c.1983C>G	NP_008859.1:p.Val661=