Canonical Allele Identifier: CA237595282
Gene: PMEL HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.55966094C>T
GRCh37 chr12:g.56359878C>T
gnomAD v2:
12:56359878 C / T
gnomAD v3:
12:55966094 C / T
gnomAD v4:
chr12-55966094-C-T
Joint Max Group AF 0.08800137 (AFR)
Genomes Max Group AF 0.08589517 (AFR)
Exomes Max Group AF 0.08898837 (AFR)
dbSNP:
2069391
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55966094C>T , CM000674.2:g.55966094C>T GRCh38
NC_000012.11:g.56359878C>T , CM000674.1:g.56359878C>T GRCh37
NC_000012.10:g.54646145C>T NCBI36
NG_028086.1:g.5619G>A
NG_034014.1:g.4326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000548493.5:c.-51-32G>A ENSP00000447374.1:n.-51-32G>A
ENST00000548689.5:n.32+584G>A
ENST00000548747.5:c.-83G>A ENSP00000448828.1:n.-83G>A
ENST00000549233.2:c.86-4362G>A ENSP00000448871.1:n.86-4362G>A
ENST00000549418.5:c.-51-32G>A ENSP00000446633.1:n.-51-32G>A
ENST00000549430.5:n.32+584G>A
ENST00000552882.5:c.-51-32G>A ENSP00000449690.1:n.-51-32G>A
NM_006928.4:c.-51-32G>A NP_008859.1:n.-51-32G>A
XM_006719569.1:c.-83G>A XP_006719632.1:n.-83G>A
XM_011538685.1:c.-51-32G>A XP_011536987.1:n.-51-32G>A
XM_011538686.1:c.-83G>A XP_011536988.1:n.-83G>A
XM_011538687.1:c.-83G>A XP_011536989.1:n.-83G>A
NM_006928.5:c.-51-32G>A NP_008859.1:n.-51-32G>A
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