Canonical Allele Identifier: CA2038177478

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954238G= , CM000674.2:g.55954238G=	GRCh38
NC_000012.11:g.56348022G= , CM000674.1:g.56348022G=	GRCh37
NC_000012.10:g.54634289G=	NCBI36
NG_028086.1:g.17475C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1962C= MANE Select	ENSP00000448828.1:p.Pro654=
ENST00000449260.6:c.1983C=	ENSP00000402758.2:p.Pro661=
ENST00000548493.5:c.1962C=	ENSP00000447374.1:p.Pro654=
ENST00000548747.5:c.1962C=	ENSP00000448828.1:p.Pro654=
ENST00000550447.5:c.849C=	ENSP00000448029.1:p.Pro283=
ENST00000550464.5:c.1704C=	ENSP00000450036.1:p.Pro568=
ENST00000552882.5:c.1962C=	ENSP00000449690.1:p.Pro654=
NM_001200053.1:c.1704C=	NP_001186982.1:p.Pro568=
NM_001200054.1:c.1983C=	NP_001186983.1:p.Pro661=
NM_006928.4:c.1962C=	NP_008859.1:p.Pro654=
XM_006719569.1:c.1962C=	XP_006719632.1:p.Pro654=
XM_011538685.1:c.1983C=	XP_011536987.1:p.Pro661=
XM_011538686.1:c.1857C=	XP_011536988.1:p.Pro619=
XM_011538687.1:c.1836C=	XP_011536989.1:p.Pro612=
NM_001320121.1:c.1857C=	NP_001307050.1:p.Pro619=
NM_001320122.1:c.1836C=	NP_001307051.1:p.Pro612=
NM_001384361.1:c.1962C= MANE Select	NP_001371290.1:p.Pro654=
NM_006928.5:c.1962C=	NP_008859.1:p.Pro654=