Canonical Allele Identifier: CA381351504
Community Standard Title: NM_018026.4(PACS1):c.943C>G (p.Arg315Gly)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66216740C>G , CM000673.2:g.66216740C>G GRCh38
NC_000011.9:g.65984211C>G , CM000673.1:g.65984211C>G GRCh37
NC_000011.8:g.65740787C>G NCBI36
NG_033900.1:g.151388C>G

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.943C>G MANE Select NP_060496.2:p.Arg315Gly
ENST00000320580.9:c.943C>G MANE Select ENSP00000316454.4:p.Arg315Gly
NM_018026.3:c.943C>G NP_060496.2:p.Arg315Gly
ENST00000320580.8:c.943C>G ENSP00000316454.4:p.Arg315Gly
ENST00000524784.1:c.115C>G ENSP00000435037.1:p.Arg39Gly
ENST00000527224.1:n.1067C>G
ENST00000531298.5:c.204C>G
XM_011545162.1:c.622C>G XP_011543464.1:p.Arg208Gly
XM_011545163.1:c.613C>G XP_011543465.1:p.Arg205Gly
XM_011545164.1:c.604C>G XP_011543466.1:p.Arg202Gly
XM_011545164.2:c.604C>G XP_011543466.1:p.Arg202Gly
XR_001747924.1:n.1154C>G