Canonical Allele Identifier: CA1998755581
Gene: NPAT HGNC NCBI

Linked Data

dbSNP Id: rs2078468960
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108220027A>G , CM000673.2:g.108220027A>G GRCh38
NC_000011.9:g.108090754A>G , CM000673.1:g.108090754A>G GRCh37
NC_000011.8:g.107595964A>G NCBI36
NG_009830.1:g.2196A>G , LRG_135:g.2196A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000278612.9:c.37+2473T>C MANE Select ENSP00000278612.8:n.37+2473T>C
ENST00000278612.8:c.37+2473T>C ENSP00000278612.8:n.37+2473T>C
ENST00000531384.1:c.37+2473T>C ENSP00000433497.1:n.37+2473T>C
ENST00000610253.5:n.137+2473T>C
NM_002519.2:c.37+2473T>C NP_002510.2:n.37+2473T>C
XM_011542854.1:c.37+2473T>C XP_011541156.1:n.37+2473T>C
XM_011542855.1:c.37+2473T>C XP_011541157.1:n.37+2473T>C
NM_001321307.1:c.37+2473T>C NP_001308236.1:n.37+2473T>C
XM_011542854.2:c.37+2473T>C XP_011541156.1:n.37+2473T>C
NM_002519.3:c.37+2473T>C MANE Select NP_002510.2:n.37+2473T>C
Search 100 bp 5'
Search 100 bp 3'