Canonical Allele Identifier: CA671406045

Gene: NPAT

Linked Data

• dbSNP Id: rs1415676192
• gnomAD v3: 11-108220008-G-C
• gnomAD v4: 11-108220008-G-C
• MyVariant Identifiers: chr11:g.108090735G>C (hg19) ; chr11:g.108220008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108220008G>C , CM000673.2:g.108220008G>C	GRCh38
NC_000011.9:g.108090735G>C , CM000673.1:g.108090735G>C	GRCh37
NC_000011.8:g.107595945G>C	NCBI36
NG_009830.1:g.2177G>C , LRG_135:g.2177G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2492C>G MANE Select	ENSP00000278612.8:n.37+2492C>G
ENST00000278612.8:c.37+2492C>G	ENSP00000278612.8:n.37+2492C>G
ENST00000531384.1:c.37+2492C>G	ENSP00000433497.1:n.37+2492C>G
ENST00000610253.5:n.137+2492C>G
NM_002519.2:c.37+2492C>G	NP_002510.2:n.37+2492C>G
XM_011542854.1:c.37+2492C>G	XP_011541156.1:n.37+2492C>G
XM_011542855.1:c.37+2492C>G	XP_011541157.1:n.37+2492C>G
NM_001321307.1:c.37+2492C>G	NP_001308236.1:n.37+2492C>G
XM_011542854.2:c.37+2492C>G	XP_011541156.1:n.37+2492C>G
NM_002519.3:c.37+2492C>G MANE Select	NP_002510.2:n.37+2492C>G