Canonical Allele Identifier: CA228361648

Gene: NPAT

Linked Data

• dbSNP Id: rs763815028
• gnomAD v3: 11-108219909-A-G
• gnomAD v4: 11-108219909-A-G
• MyVariant Identifiers: chr11:g.108090636A>G (hg19) ; chr11:g.108219909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108219909A>G , CM000673.2:g.108219909A>G	GRCh38
NC_000011.9:g.108090636A>G , CM000673.1:g.108090636A>G	GRCh37
NC_000011.8:g.107595846A>G	NCBI36
NG_009830.1:g.2078A>G , LRG_135:g.2078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2591T>C MANE Select	ENSP00000278612.8:n.37+2591T>C
ENST00000278612.8:c.37+2591T>C	ENSP00000278612.8:n.37+2591T>C
ENST00000531384.1:c.37+2591T>C	ENSP00000433497.1:n.37+2591T>C
ENST00000610253.5:n.137+2591T>C
NM_002519.2:c.37+2591T>C	NP_002510.2:n.37+2591T>C
XM_011542854.1:c.37+2591T>C	XP_011541156.1:n.37+2591T>C
XM_011542855.1:c.37+2591T>C	XP_011541157.1:n.37+2591T>C
NM_001321307.1:c.37+2591T>C	NP_001308236.1:n.37+2591T>C
XM_011542854.2:c.37+2591T>C	XP_011541156.1:n.37+2591T>C
NM_002519.3:c.37+2591T>C MANE Select	NP_002510.2:n.37+2591T>C