Canonical Allele Identifier: CA2038177466

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954229A= , CM000674.2:g.55954229A=	GRCh38
NC_000012.11:g.56348013A= , CM000674.1:g.56348013A=	GRCh37
NC_000012.10:g.54634280A=	NCBI36
NG_028086.1:g.17484T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1971T= MANE Select	ENSP00000448828.1:p.Ser657=
ENST00000449260.6:c.1992T=	ENSP00000402758.2:p.Ser664=
ENST00000548493.5:c.1971T=	ENSP00000447374.1:p.Ser657=
ENST00000548747.5:c.1971T=	ENSP00000448828.1:p.Ser657=
ENST00000550447.5:c.858T=	ENSP00000448029.1:p.Ser286=
ENST00000550464.5:c.1713T=	ENSP00000450036.1:p.Ser571=
ENST00000552882.5:c.1971T=	ENSP00000449690.1:p.Ser657=
NM_001200053.1:c.1713T=	NP_001186982.1:p.Ser571=
NM_001200054.1:c.1992T=	NP_001186983.1:p.Ser664=
NM_006928.4:c.1971T=	NP_008859.1:p.Ser657=
XM_006719569.1:c.1971T=	XP_006719632.1:p.Ser657=
XM_011538685.1:c.1992T=	XP_011536987.1:p.Ser664=
XM_011538686.1:c.1866T=	XP_011536988.1:p.Ser622=
XM_011538687.1:c.1845T=	XP_011536989.1:p.Ser615=
NM_001320121.1:c.1866T=	NP_001307050.1:p.Ser622=
NM_001320122.1:c.1845T=	NP_001307051.1:p.Ser615=
NM_001384361.1:c.1971T= MANE Select	NP_001371290.1:p.Ser657=
NM_006928.5:c.1971T=	NP_008859.1:p.Ser657=