Canonical Allele Identifier: CA385214790

Gene: PMEL

Linked Data

• gnomAD v4: 12-55954320-A-T
• MyVariant Identifiers: chr12:g.56348104A>T (hg19) ; chr12:g.55954320A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954320A>T , CM000674.2:g.55954320A>T	GRCh38
NC_000012.11:g.56348104A>T , CM000674.1:g.56348104A>T	GRCh37
NC_000012.10:g.54634371A>T	NCBI36
NG_028086.1:g.17393T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1880T>A MANE Select	ENSP00000448828.1:p.Val627Glu
ENST00000449260.6:c.1901T>A	ENSP00000402758.2:p.Val634Glu
ENST00000548493.5:c.1880T>A	ENSP00000447374.1:p.Val627Glu
ENST00000548747.5:c.1880T>A	ENSP00000448828.1:p.Val627Glu
ENST00000549564.1:n.459T>A
ENST00000550447.5:c.767T>A	ENSP00000448029.1:p.Val256Glu
ENST00000550464.5:c.1622T>A	ENSP00000450036.1:p.Val541Glu
ENST00000552882.5:c.1880T>A	ENSP00000449690.1:p.Val627Glu
NM_001200053.1:c.1622T>A	NP_001186982.1:p.Val541Glu
NM_001200054.1:c.1901T>A	NP_001186983.1:p.Val634Glu
NM_006928.4:c.1880T>A	NP_008859.1:p.Val627Glu
XM_006719569.1:c.1880T>A	XP_006719632.1:p.Val627Glu
XM_011538685.1:c.1901T>A	XP_011536987.1:p.Val634Glu
XM_011538686.1:c.1775T>A	XP_011536988.1:p.Val592Glu
XM_011538687.1:c.1754T>A	XP_011536989.1:p.Val585Glu
NM_001320121.1:c.1775T>A	NP_001307050.1:p.Val592Glu
NM_001320122.1:c.1754T>A	NP_001307051.1:p.Val585Glu
NM_001384361.1:c.1880T>A MANE Select	NP_001371290.1:p.Val627Glu
NM_006928.5:c.1880T>A	NP_008859.1:p.Val627Glu