Canonical Allele Identifier: CA6619802

Gene: PMEL

Linked Data

• dbSNP Id: rs781352850
• ExAC: 12:56348015 T / C
• gnomAD v2: 12-56348015-T-C
• gnomAD v4: 12-55954231-T-C
• MyVariant Identifiers: chr12:g.56348015T>C (hg19) ; chr12:g.55954231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954231T>C , CM000674.2:g.55954231T>C	GRCh38
NC_000012.11:g.56348015T>C , CM000674.1:g.56348015T>C	GRCh37
NC_000012.10:g.54634282T>C	NCBI36
NG_028086.1:g.17482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1969A>G MANE Select	ENSP00000448828.1:p.Ser657Gly
ENST00000449260.6:c.1990A>G	ENSP00000402758.2:p.Ser664Gly
ENST00000548493.5:c.1969A>G	ENSP00000447374.1:p.Ser657Gly
ENST00000548747.5:c.1969A>G	ENSP00000448828.1:p.Ser657Gly
ENST00000550447.5:c.856A>G	ENSP00000448029.1:p.Ser286Gly
ENST00000550464.5:c.1711A>G	ENSP00000450036.1:p.Ser571Gly
ENST00000552882.5:c.1969A>G	ENSP00000449690.1:p.Ser657Gly
NM_001200053.1:c.1711A>G	NP_001186982.1:p.Ser571Gly
NM_001200054.1:c.1990A>G	NP_001186983.1:p.Ser664Gly
NM_006928.4:c.1969A>G	NP_008859.1:p.Ser657Gly
XM_006719569.1:c.1969A>G	XP_006719632.1:p.Ser657Gly
XM_011538685.1:c.1990A>G	XP_011536987.1:p.Ser664Gly
XM_011538686.1:c.1864A>G	XP_011536988.1:p.Ser622Gly
XM_011538687.1:c.1843A>G	XP_011536989.1:p.Ser615Gly
NM_001320121.1:c.1864A>G	NP_001307050.1:p.Ser622Gly
NM_001320122.1:c.1843A>G	NP_001307051.1:p.Ser615Gly
NM_001384361.1:c.1969A>G MANE Select	NP_001371290.1:p.Ser657Gly
NM_006928.5:c.1969A>G	NP_008859.1:p.Ser657Gly