Canonical Allele Identifier: CA228361731
Gene: NPAT HGNC NCBI

Linked Data

dbSNP Id: rs940458133

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108220003T>C , CM000673.2:g.108220003T>C GRCh38
NC_000011.9:g.108090730T>C , CM000673.1:g.108090730T>C GRCh37
NC_000011.8:g.107595940T>C NCBI36
NG_009830.1:g.2172T>C , LRG_135:g.2172T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278612.9:c.37+2497A>G MANE Select ENSP00000278612.8:n.37+2497A>G
ENST00000278612.8:c.37+2497A>G ENSP00000278612.8:n.37+2497A>G
ENST00000531384.1:c.37+2497A>G ENSP00000433497.1:n.37+2497A>G
ENST00000610253.5:n.137+2497A>G
NM_002519.2:c.37+2497A>G NP_002510.2:n.37+2497A>G
XM_011542854.1:c.37+2497A>G XP_011541156.1:n.37+2497A>G
XM_011542855.1:c.37+2497A>G XP_011541157.1:n.37+2497A>G
NM_001321307.1:c.37+2497A>G NP_001308236.1:n.37+2497A>G
XM_011542854.2:c.37+2497A>G XP_011541156.1:n.37+2497A>G
NM_002519.3:c.37+2497A>G MANE Select NP_002510.2:n.37+2497A>G