Canonical Allele Identifier: CA1998755587

Gene: NPAT

Linked Data

• dbSNP Id: rs1038943147
• gnomAD v3: 11-108220037-G-A
• gnomAD v4: 11-108220037-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108220037G>A , CM000673.2:g.108220037G>A	GRCh38
NC_000011.9:g.108090764G>A , CM000673.1:g.108090764G>A	GRCh37
NC_000011.8:g.107595974G>A	NCBI36
NG_009830.1:g.2206G>A , LRG_135:g.2206G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278612.9:c.37+2463C>T MANE Select	ENSP00000278612.8:n.37+2463C>T
ENST00000278612.8:c.37+2463C>T	ENSP00000278612.8:n.37+2463C>T
ENST00000531384.1:c.37+2463C>T	ENSP00000433497.1:n.37+2463C>T
ENST00000610253.5:n.137+2463C>T
NM_002519.2:c.37+2463C>T	NP_002510.2:n.37+2463C>T
XM_011542854.1:c.37+2463C>T	XP_011541156.1:n.37+2463C>T
XM_011542855.1:c.37+2463C>T	XP_011541157.1:n.37+2463C>T
NM_001321307.1:c.37+2463C>T	NP_001308236.1:n.37+2463C>T
XM_011542854.2:c.37+2463C>T	XP_011541156.1:n.37+2463C>T
NM_002519.3:c.37+2463C>T MANE Select	NP_002510.2:n.37+2463C>T