Canonical Allele Identifier: CA228361610
Gene: NPAT HGNC NCBI

Linked Data

dbSNP Id: rs967437566

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108219851C>T , CM000673.2:g.108219851C>T GRCh38
NC_000011.9:g.108090578C>T , CM000673.1:g.108090578C>T GRCh37
NC_000011.8:g.107595788C>T NCBI36
NG_009830.1:g.2020C>T , LRG_135:g.2020C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278612.9:c.37+2649G>A MANE Select ENSP00000278612.8:n.37+2649G>A
ENST00000278612.8:c.37+2649G>A ENSP00000278612.8:n.37+2649G>A
ENST00000531384.1:c.37+2649G>A ENSP00000433497.1:n.37+2649G>A
ENST00000610253.5:n.137+2649G>A
NM_002519.2:c.37+2649G>A NP_002510.2:n.37+2649G>A
XM_011542854.1:c.37+2649G>A XP_011541156.1:n.37+2649G>A
XM_011542855.1:c.37+2649G>A XP_011541157.1:n.37+2649G>A
NM_001321307.1:c.37+2649G>A NP_001308236.1:n.37+2649G>A
XM_011542854.2:c.37+2649G>A XP_011541156.1:n.37+2649G>A
NM_002519.3:c.37+2649G>A MANE Select NP_002510.2:n.37+2649G>A