Canonical Allele Identifier: CA14420888
Gene: PNMT HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.39668086G>A
GRCh37 chr17:g.37824339G>A
gnomAD v2:
17:37824339 G / A
gnomAD v3:
17:39668086 G / A
gnomAD v4:
chr17-39668086-G-A
Joint Max Group AF 0.68003924 (SAS)
Genomes Max Group AF 0.67955114 (SAS)
Exomes Max Group AF 0.63617534 (NFE)
dbSNP:
3764351
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39668086G>A , CM000679.2:g.39668086G>A GRCh38
NC_000017.10:g.37824339G>A , CM000679.1:g.37824339G>A GRCh37
NC_000017.9:g.35077865G>A NCBI36
NG_008892.1:g.7741G>A , LRG_210:g.7741G>A
NG_042278.1:g.5106G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394246.1:c.-93+16G>A ENSP00000377791.1:n.-93+16G>A
NR_073461.1:n.90+16G>A
NR_073461.2:n.52+16G>A
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