Canonical Allele Identifier: CA401463361
Gene: NPLOC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81629723A>G , CM000679.2:g.81629723A>G GRCh38
NC_000017.10:g.79596749A>G , CM000679.1:g.79596749A>G GRCh37
NC_000017.9:g.77207154A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000705719.1:c.225+2T>C ENSP00000516165.1:n.225+2T>C
ENST00000331134.11:c.96+2T>C MANE Select ENSP00000331487.5:n.96+2T>C
ENST00000331134.10:c.96+2T>C ENSP00000331487.5:n.96+2T>C
ENST00000374747.9:c.96+2T>C ENSP00000363879.5:n.96+2T>C
ENST00000570300.1:n.117+2T>C
ENST00000574897.5:c.96+2T>C ENSP00000461543.1:n.96+2T>C
ENST00000625705.1:c.93+2T>C ENSP00000486640.1:n.93+2T>C
NM_017921.3:c.96+2T>C NP_060391.2:n.96+2T>C
XM_011524979.1:c.96+2T>C XP_011523281.1:n.96+2T>C
XM_011524980.1:c.96+2T>C XP_011523282.1:n.96+2T>C
XM_011524981.1:c.96+2T>C XP_011523283.1:n.96+2T>C
XM_011524982.1:c.96+2T>C XP_011523284.1:n.96+2T>C
XR_934501.1:n.314+2T>C
XR_934502.1:n.314+2T>C
XM_011524982.2:c.96+2T>C XP_011523284.1:n.96+2T>C
XR_001752557.1:n.314+2T>C
NM_017921.4:c.96+2T>C MANE Select NP_060391.2:n.96+2T>C
NM_001369698.1:c.96+2T>C NP_001356627.1:n.96+2T>C