Canonical Allele Identifier: CA2038177475

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954233A= , CM000674.2:g.55954233A=	GRCh38
NC_000012.11:g.56348017A= , CM000674.1:g.56348017A=	GRCh37
NC_000012.10:g.54634284A=	NCBI36
NG_028086.1:g.17480T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1967T= MANE Select	ENSP00000448828.1:p.Leu656=
ENST00000449260.6:c.1988T=	ENSP00000402758.2:p.Leu663=
ENST00000548493.5:c.1967T=	ENSP00000447374.1:p.Leu656=
ENST00000548747.5:c.1967T=	ENSP00000448828.1:p.Leu656=
ENST00000550447.5:c.854T=	ENSP00000448029.1:p.Leu285=
ENST00000550464.5:c.1709T=	ENSP00000450036.1:p.Leu570=
ENST00000552882.5:c.1967T=	ENSP00000449690.1:p.Leu656=
NM_001200053.1:c.1709T=	NP_001186982.1:p.Leu570=
NM_001200054.1:c.1988T=	NP_001186983.1:p.Leu663=
NM_006928.4:c.1967T=	NP_008859.1:p.Leu656=
XM_006719569.1:c.1967T=	XP_006719632.1:p.Leu656=
XM_011538685.1:c.1988T=	XP_011536987.1:p.Leu663=
XM_011538686.1:c.1862T=	XP_011536988.1:p.Leu621=
XM_011538687.1:c.1841T=	XP_011536989.1:p.Leu614=
NM_001320121.1:c.1862T=	NP_001307050.1:p.Leu621=
NM_001320122.1:c.1841T=	NP_001307051.1:p.Leu614=
NM_001384361.1:c.1967T= MANE Select	NP_001371290.1:p.Leu656=
NM_006928.5:c.1967T=	NP_008859.1:p.Leu656=