Canonical Allele Identifier: CA385216949

Gene: PMEL

Linked Data

• dbSNP Id: rs1218604268
• gnomAD v2: 12-56350880-C-T
• gnomAD v3: 12-55957096-C-T
• gnomAD v4: 12-55957096-C-T
• MyVariant Identifiers: chr12:g.56350880C>T (hg19) ; chr12:g.55957096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957096C>T , CM000674.2:g.55957096C>T	GRCh38
NC_000012.11:g.56350880C>T , CM000674.1:g.56350880C>T	GRCh37
NC_000012.10:g.54637147C>T	NCBI36
NG_028086.1:g.14617G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1207G>A MANE Select	ENSP00000448828.1:p.Ala403Thr
ENST00000449260.6:c.1207G>A	ENSP00000402758.2:p.Ala403Thr
ENST00000548493.5:c.1207G>A	ENSP00000447374.1:p.Ala403Thr
ENST00000548747.5:c.1207G>A	ENSP00000448828.1:p.Ala403Thr
ENST00000548803.5:c.671-37G>A	ENSP00000447732.1:n.671-37G>A
ENST00000549404.5:c.780-37G>A
ENST00000549564.1:n.235+12G>A
ENST00000550447.5:c.359-1233G>A	ENSP00000448029.1:n.359-1233G>A
ENST00000550464.5:c.949G>A	ENSP00000450036.1:p.Ala317Thr
ENST00000552882.5:c.1207G>A	ENSP00000449690.1:p.Ala403Thr
NM_001200053.1:c.949G>A	NP_001186982.1:p.Ala317Thr
NM_001200054.1:c.1207G>A	NP_001186983.1:p.Ala403Thr
NM_006928.4:c.1207G>A	NP_008859.1:p.Ala403Thr
XM_006719569.1:c.1207G>A	XP_006719632.1:p.Ala403Thr
XM_011538685.1:c.1207G>A	XP_011536987.1:p.Ala403Thr
XM_011538686.1:c.1118-37G>A	XP_011536988.1:n.1118-37G>A
XM_011538687.1:c.1118-37G>A	XP_011536989.1:n.1118-37G>A
NM_001320121.1:c.1118-37G>A	NP_001307050.1:n.1118-37G>A
NM_001320122.1:c.1118-37G>A	NP_001307051.1:n.1118-37G>A
NM_001384361.1:c.1207G>A MANE Select	NP_001371290.1:p.Ala403Thr
NM_006928.5:c.1207G>A	NP_008859.1:p.Ala403Thr