Canonical Allele Identifier: CA947964255

Gene: PMEL

Linked Data

• dbSNP Id: rs1888714747
• gnomAD v3: 12-55954134-A-G
• gnomAD v4: 12-55954134-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954134A>G , CM000674.2:g.55954134A>G	GRCh38
NC_000012.11:g.56347918A>G , CM000674.1:g.56347918A>G	GRCh37
NC_000012.10:g.54634185A>G	NCBI36
NG_028086.1:g.17579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.*80T>C MANE Select	ENSP00000448828.1:n.*80T>C
ENST00000449260.6:c.*80T>C	ENSP00000402758.2:n.*80T>C
ENST00000548493.5:c.*80T>C	ENSP00000447374.1:n.*80T>C
ENST00000548747.5:c.*80T>C	ENSP00000448828.1:n.*80T>C
ENST00000550464.5:c.*80T>C	ENSP00000450036.1:n.*80T>C
ENST00000552882.5:c.*80T>C	ENSP00000449690.1:n.*80T>C
NM_001200053.1:c.*80T>C	NP_001186982.1:n.*80T>C
NM_001200054.1:c.*80T>C	NP_001186983.1:n.*80T>C
NM_006928.4:c.*80T>C	NP_008859.1:n.*80T>C
XM_006719569.1:c.*80T>C	XP_006719632.1:n.*80T>C
XM_011538685.1:c.*80T>C	XP_011536987.1:n.*80T>C
XM_011538686.1:c.*80T>C	XP_011536988.1:n.*80T>C
XM_011538687.1:c.*80T>C	XP_011536989.1:n.*80T>C
NM_001320121.1:c.*80T>C	NP_001307050.1:n.*80T>C
NM_001320122.1:c.*80T>C	NP_001307051.1:n.*80T>C
NM_001384361.1:c.*80T>C MANE Select	NP_001371290.1:n.*80T>C
NM_006928.5:c.*80T>C	NP_008859.1:n.*80T>C