Canonical Allele Identifier: CA6620088
Gene: PMEL HGNC NCBI

Linked Data

dbSNP Id: rs745437192

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957294G>C , CM000674.2:g.55957294G>C GRCh38
NC_000012.11:g.56351078G>C , CM000674.1:g.56351078G>C GRCh37
NC_000012.10:g.54637345G>C NCBI36
NG_028086.1:g.14419C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000548747.6:c.1009C>G MANE Select ENSP00000448828.1:p.Pro337Ala
ENST00000449260.6:c.1009C>G ENSP00000402758.2:p.Pro337Ala
ENST00000546543.5:c.862C>G ENSP00000446662.1:p.Pro288Ala
ENST00000547137.5:c.847C>G ENSP00000448849.1:p.Pro283Ala
ENST00000548493.5:c.1009C>G ENSP00000447374.1:p.Pro337Ala
ENST00000548747.5:c.1009C>G ENSP00000448828.1:p.Pro337Ala
ENST00000548803.5:c.562C>G ENSP00000447732.1:p.Pro188Ala
ENST00000549404.5:c.671C>G
ENST00000549564.1:n.49C>G
ENST00000550447.5:c.358+1179C>G ENSP00000448029.1:n.358+1179C>G
ENST00000550464.5:c.751C>G ENSP00000450036.1:p.Pro251Ala
ENST00000552882.5:c.1009C>G ENSP00000449690.1:p.Pro337Ala
ENST00000556802.1:n.745C>G
NM_001200053.1:c.751C>G NP_001186982.1:p.Pro251Ala
NM_001200054.1:c.1009C>G NP_001186983.1:p.Pro337Ala
NM_006928.4:c.1009C>G NP_008859.1:p.Pro337Ala
XM_006719569.1:c.1009C>G XP_006719632.1:p.Pro337Ala
XM_011538685.1:c.1009C>G XP_011536987.1:p.Pro337Ala
XM_011538686.1:c.1009C>G XP_011536988.1:p.Pro337Ala
XM_011538687.1:c.1009C>G XP_011536989.1:p.Pro337Ala
NM_001320121.1:c.1009C>G NP_001307050.1:p.Pro337Ala
NM_001320122.1:c.1009C>G NP_001307051.1:p.Pro337Ala
NM_001384361.1:c.1009C>G MANE Select NP_001371290.1:p.Pro337Ala
NM_006928.5:c.1009C>G NP_008859.1:p.Pro337Ala