Canonical Allele Identifier: CA480178613

Gene: PMEL

Linked Data

• dbSNP Id: rs1216769332
• gnomAD v2: 12-56348124-A-G
• gnomAD v4: 12-55954340-A-G
• MyVariant Identifiers: chr12:g.56348124A>G (hg19) ; chr12:g.55954340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954340A>G , CM000674.2:g.55954340A>G	GRCh38
NC_000012.11:g.56348124A>G , CM000674.1:g.56348124A>G	GRCh37
NC_000012.10:g.54634391A>G	NCBI36
NG_028086.1:g.17373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1860T>C MANE Select	ENSP00000448828.1:p.Leu620=
ENST00000449260.6:c.1881T>C	ENSP00000402758.2:p.Leu627=
ENST00000548493.5:c.1860T>C	ENSP00000447374.1:p.Leu620=
ENST00000548747.5:c.1860T>C	ENSP00000448828.1:p.Leu620=
ENST00000549564.1:n.439T>C
ENST00000550447.5:c.747T>C	ENSP00000448029.1:p.Leu249=
ENST00000550464.5:c.1602T>C	ENSP00000450036.1:p.Leu534=
ENST00000552882.5:c.1860T>C	ENSP00000449690.1:p.Leu620=
NM_001200053.1:c.1602T>C	NP_001186982.1:p.Leu534=
NM_001200054.1:c.1881T>C	NP_001186983.1:p.Leu627=
NM_006928.4:c.1860T>C	NP_008859.1:p.Leu620=
XM_006719569.1:c.1860T>C	XP_006719632.1:p.Leu620=
XM_011538685.1:c.1881T>C	XP_011536987.1:p.Leu627=
XM_011538686.1:c.1755T>C	XP_011536988.1:p.Leu585=
XM_011538687.1:c.1734T>C	XP_011536989.1:p.Leu578=
NM_001320121.1:c.1755T>C	NP_001307050.1:p.Leu585=
NM_001320122.1:c.1734T>C	NP_001307051.1:p.Leu578=
NM_001384361.1:c.1860T>C MANE Select	NP_001371290.1:p.Leu620=
NM_006928.5:c.1860T>C	NP_008859.1:p.Leu620=