Canonical Allele Identifier: CA6264463
Gene: NPAT HGNC NCBI
gnomAD v2:
11:108093208 A / T
gnomAD v3:
11:108222481 A / T
gnomAD v4:
chr11-108222481-A-T
Joint Max Group AF 0.70422689 (MID)
Genomes Max Group AF 0.6308372 (SAS)
Exomes Max Group AF 0.70280129 (MID)
ClinVar RCV:
RCV003106299
ClinVar Variation:
2413966
dbSNP:
228589
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108222481A>T , CM000673.2:g.108222481A>T GRCh38
NC_000011.9:g.108093208A>T , CM000673.1:g.108093208A>T GRCh37
NC_000011.8:g.107598418A>T NCBI36
NG_009830.1:g.4650A>T , LRG_135:g.4650A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278612.9:c.37+19T>A MANE Select ENSP00000278612.8:n.37+19T>A
ENST00000278612.8:c.37+19T>A ENSP00000278612.8:n.37+19T>A
ENST00000531384.1:c.37+19T>A ENSP00000433497.1:n.37+19T>A
ENST00000610253.5:n.137+19T>A
NM_002519.2:c.37+19T>A NP_002510.2:n.37+19T>A
XM_011542854.1:c.37+19T>A XP_011541156.1:n.37+19T>A
XM_011542855.1:c.37+19T>A XP_011541157.1:n.37+19T>A
NM_001321307.1:c.37+19T>A NP_001308236.1:n.37+19T>A
XM_011542854.2:c.37+19T>A XP_011541156.1:n.37+19T>A
NM_002519.3:c.37+19T>A MANE Select NP_002510.2:n.37+19T>A
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