Canonical Allele Identifier: CA2038177551

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954270A= , CM000674.2:g.55954270A=	GRCh38
NC_000012.11:g.56348054A= , CM000674.1:g.56348054A=	GRCh37
NC_000012.10:g.54634321A=	NCBI36
NG_028086.1:g.17443T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1930T= MANE Select	ENSP00000448828.1:p.Phe644=
ENST00000449260.6:c.1951T=	ENSP00000402758.2:p.Phe651=
ENST00000548493.5:c.1930T=	ENSP00000447374.1:p.Phe644=
ENST00000548747.5:c.1930T=	ENSP00000448828.1:p.Phe644=
ENST00000550447.5:c.817T=	ENSP00000448029.1:p.Phe273=
ENST00000550464.5:c.1672T=	ENSP00000450036.1:p.Phe558=
ENST00000552882.5:c.1930T=	ENSP00000449690.1:p.Phe644=
NM_001200053.1:c.1672T=	NP_001186982.1:p.Phe558=
NM_001200054.1:c.1951T=	NP_001186983.1:p.Phe651=
NM_006928.4:c.1930T=	NP_008859.1:p.Phe644=
XM_006719569.1:c.1930T=	XP_006719632.1:p.Phe644=
XM_011538685.1:c.1951T=	XP_011536987.1:p.Phe651=
XM_011538686.1:c.1825T=	XP_011536988.1:p.Phe609=
XM_011538687.1:c.1804T=	XP_011536989.1:p.Phe602=
NM_001320121.1:c.1825T=	NP_001307050.1:p.Phe609=
NM_001320122.1:c.1804T=	NP_001307051.1:p.Phe602=
NM_001384361.1:c.1930T= MANE Select	NP_001371290.1:p.Phe644=
NM_006928.5:c.1930T=	NP_008859.1:p.Phe644=