Canonical Allele Identifier: CA2038181452
Gene: PMEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957286C= , CM000674.2:g.55957286C= GRCh38
NC_000012.11:g.56351070C= , CM000674.1:g.56351070C= GRCh37
NC_000012.10:g.54637337C= NCBI36
NG_028086.1:g.14427G=

Transcript Alleles

HGVS Amino-acid change
ENST00000548747.6:c.1017G= MANE Select ENSP00000448828.1:p.Gln339=
ENST00000449260.6:c.1017G= ENSP00000402758.2:p.Gln339=
ENST00000546543.5:c.870G= ENSP00000446662.1:p.Gln290=
ENST00000547137.5:c.855G= ENSP00000448849.1:p.Gln285=
ENST00000548493.5:c.1017G= ENSP00000447374.1:p.Gln339=
ENST00000548747.5:c.1017G= ENSP00000448828.1:p.Gln339=
ENST00000548803.5:c.570G= ENSP00000447732.1:p.Gln190=
ENST00000549404.5:c.679G=
ENST00000549564.1:n.57G=
ENST00000550447.5:c.358+1187G= ENSP00000448029.1:n.358+1187G=
ENST00000550464.5:c.759G= ENSP00000450036.1:p.Gln253=
ENST00000552882.5:c.1017G= ENSP00000449690.1:p.Gln339=
ENST00000556802.1:n.753G=
NM_001200053.1:c.759G= NP_001186982.1:p.Gln253=
NM_001200054.1:c.1017G= NP_001186983.1:p.Gln339=
NM_006928.4:c.1017G= NP_008859.1:p.Gln339=
XM_006719569.1:c.1017G= XP_006719632.1:p.Gln339=
XM_011538685.1:c.1017G= XP_011536987.1:p.Gln339=
XM_011538686.1:c.1017G= XP_011536988.1:p.Gln339=
XM_011538687.1:c.1017G= XP_011536989.1:p.Gln339=
NM_001320121.1:c.1017G= NP_001307050.1:p.Gln339=
NM_001320122.1:c.1017G= NP_001307051.1:p.Gln339=
NM_001384361.1:c.1017G= MANE Select NP_001371290.1:p.Gln339=
NM_006928.5:c.1017G= NP_008859.1:p.Gln339=