Canonical Allele Identifier: CA1018978596
Gene: PHACTR3 HGNC NCBI

Linked Data

dbSNP Id: rs2041949557

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59818698C>G , CM000682.2:g.59818698C>G GRCh38
NC_000020.10:g.58393753C>G , CM000682.1:g.58393753C>G GRCh37
NC_000020.9:g.57827148C>G NCBI36
NG_029537.1:g.246190C>G
NG_029537.2:g.246190C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371015.6:c.1328+12504C>G MANE Select ENSP00000360054.1:n.1328+12504C>G
ENST00000355648.8:c.1205+12504C>G ENSP00000347866.4:n.1205+12504C>G
ENST00000359926.7:c.1319+12504C>G ENSP00000353002.3:n.1319+12504C>G
ENST00000361300.4:c.995+12504C>G ENSP00000354555.4:n.995+12504C>G
ENST00000371015.5:c.1328+12504C>G ENSP00000360054.1:n.1328+12504C>G
ENST00000395636.6:c.1205+12504C>G ENSP00000378998.2:n.1205+12504C>G
ENST00000541461.5:c.1205+12504C>G ENSP00000442483.1:n.1205+12504C>G
NM_001199505.1:c.1319+12504C>G NP_001186434.1:n.1319+12504C>G
NM_001199506.1:c.1205+12504C>G NP_001186435.1:n.1205+12504C>G
NM_001281507.1:c.1205+12504C>G NP_001268436.1:n.1205+12504C>G
NM_080672.4:c.1328+12504C>G NP_542403.1:n.1328+12504C>G
NM_183244.1:c.1205+12504C>G NP_899067.1:n.1205+12504C>G
NM_183246.1:c.995+12504C>G NP_899069.1:n.995+12504C>G
XM_011528525.1:c.1205+12504C>G XP_011526827.1:n.1205+12504C>G
XM_011528526.1:c.1118+12504C>G XP_011526828.1:n.1118+12504C>G
XM_011528525.2:c.1205+12504C>G XP_011526827.1:n.1205+12504C>G
XM_011528526.2:c.1118+12504C>G XP_011526828.1:n.1118+12504C>G
XM_017027626.2:c.1205+12504C>G XP_016883115.1:n.1205+12504C>G
XM_017027627.2:c.1205+12504C>G XP_016883116.1:n.1205+12504C>G
XM_017027628.1:c.1109+12504C>G XP_016883117.1:n.1109+12504C>G
XM_017027629.2:c.995+12504C>G XP_016883118.1:n.995+12504C>G
XM_017027630.1:c.995+12504C>G XP_016883119.1:n.995+12504C>G
XM_017027631.1:c.1205+12504C>G XP_016883120.1:n.1205+12504C>G
NM_080672.5:c.1328+12504C>G MANE Select NP_542403.1:n.1328+12504C>G
NM_001199506.2:c.1205+12504C>G NP_001186435.1:n.1205+12504C>G
NM_001281507.2:c.1205+12504C>G NP_001268436.1:n.1205+12504C>G
NM_183244.2:c.1205+12504C>G NP_899067.1:n.1205+12504C>G
NM_183246.2:c.995+12504C>G NP_899069.1:n.995+12504C>G