Canonical Allele Identifier: CA6619805

Gene: PMEL

Linked Data

• dbSNP Id: rs775136742
• ExAC: 12:56348037 A / G
• gnomAD v2: 12-56348037-A-G
• gnomAD v4: 12-55954253-A-G
• MyVariant Identifiers: chr12:g.56348037A>G (hg19) ; chr12:g.55954253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954253A>G , CM000674.2:g.55954253A>G	GRCh38
NC_000012.11:g.56348037A>G , CM000674.1:g.56348037A>G	GRCh37
NC_000012.10:g.54634304A>G	NCBI36
NG_028086.1:g.17460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1947T>C MANE Select	ENSP00000448828.1:p.Ile649=
ENST00000449260.6:c.1968T>C	ENSP00000402758.2:p.Ile656=
ENST00000548493.5:c.1947T>C	ENSP00000447374.1:p.Ile649=
ENST00000548747.5:c.1947T>C	ENSP00000448828.1:p.Ile649=
ENST00000550447.5:c.834T>C	ENSP00000448029.1:p.Ile278=
ENST00000550464.5:c.1689T>C	ENSP00000450036.1:p.Ile563=
ENST00000552882.5:c.1947T>C	ENSP00000449690.1:p.Ile649=
NM_001200053.1:c.1689T>C	NP_001186982.1:p.Ile563=
NM_001200054.1:c.1968T>C	NP_001186983.1:p.Ile656=
NM_006928.4:c.1947T>C	NP_008859.1:p.Ile649=
XM_006719569.1:c.1947T>C	XP_006719632.1:p.Ile649=
XM_011538685.1:c.1968T>C	XP_011536987.1:p.Ile656=
XM_011538686.1:c.1842T>C	XP_011536988.1:p.Ile614=
XM_011538687.1:c.1821T>C	XP_011536989.1:p.Ile607=
NM_001320121.1:c.1842T>C	NP_001307050.1:p.Ile614=
NM_001320122.1:c.1821T>C	NP_001307051.1:p.Ile607=
NM_001384361.1:c.1947T>C MANE Select	NP_001371290.1:p.Ile649=
NM_006928.5:c.1947T>C	NP_008859.1:p.Ile649=