Canonical Allele Identifier: CA385214851

Gene: PMEL

Linked Data

• dbSNP Id: rs746019205
• gnomAD v3: 12-55954347-C-A
• gnomAD v4: 12-55954347-C-A
• MyVariant Identifiers: chr12:g.56348131C>A (hg19) ; chr12:g.55954347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954347C>A , CM000674.2:g.55954347C>A	GRCh38
NC_000012.11:g.56348131C>A , CM000674.1:g.56348131C>A	GRCh37
NC_000012.10:g.54634398C>A	NCBI36
NG_028086.1:g.17366G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1853G>T MANE Select	ENSP00000448828.1:p.Arg618Leu
ENST00000449260.6:c.1874G>T	ENSP00000402758.2:p.Arg625Leu
ENST00000548493.5:c.1853G>T	ENSP00000447374.1:p.Arg618Leu
ENST00000548747.5:c.1853G>T	ENSP00000448828.1:p.Arg618Leu
ENST00000549564.1:n.432G>T
ENST00000550447.5:c.740G>T	ENSP00000448029.1:p.Arg247Leu
ENST00000550464.5:c.1595G>T	ENSP00000450036.1:p.Arg532Leu
ENST00000552882.5:c.1853G>T	ENSP00000449690.1:p.Arg618Leu
NM_001200053.1:c.1595G>T	NP_001186982.1:p.Arg532Leu
NM_001200054.1:c.1874G>T	NP_001186983.1:p.Arg625Leu
NM_006928.4:c.1853G>T	NP_008859.1:p.Arg618Leu
XM_006719569.1:c.1853G>T	XP_006719632.1:p.Arg618Leu
XM_011538685.1:c.1874G>T	XP_011536987.1:p.Arg625Leu
XM_011538686.1:c.1748G>T	XP_011536988.1:p.Arg583Leu
XM_011538687.1:c.1727G>T	XP_011536989.1:p.Arg576Leu
NM_001320121.1:c.1748G>T	NP_001307050.1:p.Arg583Leu
NM_001320122.1:c.1727G>T	NP_001307051.1:p.Arg576Leu
NM_001384361.1:c.1853G>T MANE Select	NP_001371290.1:p.Arg618Leu
NM_006928.5:c.1853G>T	NP_008859.1:p.Arg618Leu