Canonical Allele Identifier: CA228361824

Gene: NPAT

Linked Data

• dbSNP Id: rs957449299
• gnomAD v2: 11-108090912-C-T
• gnomAD v3: 11-108220185-C-T
• gnomAD v4: 11-108220185-C-T
• MyVariant Identifiers: chr11:g.108090912C>T (hg19) ; chr11:g.108220185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108220185C>T , CM000673.2:g.108220185C>T	GRCh38
NC_000011.9:g.108090912C>T , CM000673.1:g.108090912C>T	GRCh37
NC_000011.8:g.107596122C>T	NCBI36
NG_009830.1:g.2354C>T , LRG_135:g.2354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2315G>A MANE Select	ENSP00000278612.8:n.37+2315G>A
ENST00000278612.8:c.37+2315G>A	ENSP00000278612.8:n.37+2315G>A
ENST00000531384.1:c.37+2315G>A	ENSP00000433497.1:n.37+2315G>A
ENST00000610253.5:n.137+2315G>A
NM_002519.2:c.37+2315G>A	NP_002510.2:n.37+2315G>A
XM_011542854.1:c.37+2315G>A	XP_011541156.1:n.37+2315G>A
XM_011542855.1:c.37+2315G>A	XP_011541157.1:n.37+2315G>A
NM_001321307.1:c.37+2315G>A	NP_001308236.1:n.37+2315G>A
XM_011542854.2:c.37+2315G>A	XP_011541156.1:n.37+2315G>A
NM_002519.3:c.37+2315G>A MANE Select	NP_002510.2:n.37+2315G>A