Canonical Allele Identifier: CA385214560

Gene: PMEL

Linked Data

• gnomAD v4: 12-55954214-T-G
• MyVariant Identifiers: chr12:g.56347998T>G (hg19) ; chr12:g.55954214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954214T>G , CM000674.2:g.55954214T>G	GRCh38
NC_000012.11:g.56347998T>G , CM000674.1:g.56347998T>G	GRCh37
NC_000012.10:g.54634265T>G	NCBI36
NG_028086.1:g.17499A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1986A>C MANE Select	ENSP00000448828.1:p.Ter662Cys
ENST00000449260.6:c.2007A>C	ENSP00000402758.2:p.Ter669Cys
ENST00000548493.5:c.1986A>C	ENSP00000447374.1:p.Ter662Cys
ENST00000548747.5:c.1986A>C	ENSP00000448828.1:p.Ter662Cys
ENST00000550447.5:c.873A>C	ENSP00000448029.1:p.Ter291Cys
ENST00000550464.5:c.1728A>C	ENSP00000450036.1:p.Ter576Cys
ENST00000552882.5:c.1986A>C	ENSP00000449690.1:p.Ter662Cys
NM_001200053.1:c.1728A>C	NP_001186982.1:p.Ter576Cys
NM_001200054.1:c.2007A>C	NP_001186983.1:p.Ter669Cys
NM_006928.4:c.1986A>C	NP_008859.1:p.Ter662Cys
XM_006719569.1:c.1986A>C	XP_006719632.1:p.Ter662Cys
XM_011538685.1:c.2007A>C	XP_011536987.1:p.Ter669Cys
XM_011538686.1:c.1881A>C	XP_011536988.1:p.Ter627Cys
XM_011538687.1:c.1860A>C	XP_011536989.1:p.Ter620Cys
NM_001320121.1:c.1881A>C	NP_001307050.1:p.Ter627Cys
NM_001320122.1:c.1860A>C	NP_001307051.1:p.Ter620Cys
NM_001384361.1:c.1986A>C MANE Select	NP_001371290.1:p.Ter662Cys
NM_006928.5:c.1986A>C	NP_008859.1:p.Ter662Cys