Canonical Allele Identifier: CA2038192585

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55966094C= , CM000674.2:g.55966094C=	GRCh38
NC_000012.11:g.56359878C= , CM000674.1:g.56359878C=	GRCh37
NC_000012.10:g.54646145C=	NCBI36
NG_028086.1:g.5619G=
NG_034014.1:g.4326C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006928.4:c.-51-32G=	NP_008859.1:n.-51-32G=
NM_006928.5:c.-51-32G=	NP_008859.1:n.-51-32G=
ENST00000548493.5:c.-51-32G=	ENSP00000447374.1:n.-51-32G=
ENST00000548689.5:n.32+584G=
ENST00000548747.5:c.-83G=	ENSP00000448828.1:n.-83G=
ENST00000549233.2:c.86-4362G=	ENSP00000448871.1:n.86-4362G=
ENST00000549418.5:c.-51-32G=	ENSP00000446633.1:n.-51-32G=
ENST00000549430.5:n.32+584G=
ENST00000552882.5:c.-51-32G=	ENSP00000449690.1:n.-51-32G=
XM_006719569.1:c.-83G=	XP_006719632.1:n.-83G=
XM_011538685.1:c.-51-32G=	XP_011536987.1:n.-51-32G=
XM_011538686.1:c.-83G=	XP_011536988.1:n.-83G=
XM_011538687.1:c.-83G=	XP_011536989.1:n.-83G=