Canonical Allele Identifier: CA657926248
Gene: PHACTR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59818546T>C , CM000682.2:g.59818546T>C GRCh38
NC_000020.10:g.58393601T>C , CM000682.1:g.58393601T>C GRCh37
NC_000020.9:g.57826996T>C NCBI36
NG_029537.1:g.246038T>C
NG_029537.2:g.246038T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371015.6:c.1328+12352T>C MANE Select ENSP00000360054.1:n.1328+12352T>C
ENST00000355648.8:c.1205+12352T>C ENSP00000347866.4:n.1205+12352T>C
ENST00000359926.7:c.1319+12352T>C ENSP00000353002.3:n.1319+12352T>C
ENST00000361300.4:c.995+12352T>C ENSP00000354555.4:n.995+12352T>C
ENST00000371015.5:c.1328+12352T>C ENSP00000360054.1:n.1328+12352T>C
ENST00000395636.6:c.1205+12352T>C ENSP00000378998.2:n.1205+12352T>C
ENST00000541461.5:c.1205+12352T>C ENSP00000442483.1:n.1205+12352T>C
NM_001199505.1:c.1319+12352T>C NP_001186434.1:n.1319+12352T>C
NM_001199506.1:c.1205+12352T>C NP_001186435.1:n.1205+12352T>C
NM_001281507.1:c.1205+12352T>C NP_001268436.1:n.1205+12352T>C
NM_080672.4:c.1328+12352T>C NP_542403.1:n.1328+12352T>C
NM_183244.1:c.1205+12352T>C NP_899067.1:n.1205+12352T>C
NM_183246.1:c.995+12352T>C NP_899069.1:n.995+12352T>C
XM_011528525.1:c.1205+12352T>C XP_011526827.1:n.1205+12352T>C
XM_011528526.1:c.1118+12352T>C XP_011526828.1:n.1118+12352T>C
XM_011528525.2:c.1205+12352T>C XP_011526827.1:n.1205+12352T>C
XM_011528526.2:c.1118+12352T>C XP_011526828.1:n.1118+12352T>C
XM_017027626.2:c.1205+12352T>C XP_016883115.1:n.1205+12352T>C
XM_017027627.2:c.1205+12352T>C XP_016883116.1:n.1205+12352T>C
XM_017027628.1:c.1109+12352T>C XP_016883117.1:n.1109+12352T>C
XM_017027629.2:c.995+12352T>C XP_016883118.1:n.995+12352T>C
XM_017027630.1:c.995+12352T>C XP_016883119.1:n.995+12352T>C
XM_017027631.1:c.1205+12352T>C XP_016883120.1:n.1205+12352T>C
NM_080672.5:c.1328+12352T>C MANE Select NP_542403.1:n.1328+12352T>C
NM_001199506.2:c.1205+12352T>C NP_001186435.1:n.1205+12352T>C
NM_001281507.2:c.1205+12352T>C NP_001268436.1:n.1205+12352T>C
NM_183244.2:c.1205+12352T>C NP_899067.1:n.1205+12352T>C
NM_183246.2:c.995+12352T>C NP_899069.1:n.995+12352T>C