Canonical Allele Identifier: CA6116323
Community Standard Title: NM_018026.4(PACS1):c.710A>G (p.Asn237Ser)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66216168A>G , CM000673.2:g.66216168A>G GRCh38
NC_000011.9:g.65983639A>G , CM000673.1:g.65983639A>G GRCh37
NC_000011.8:g.65740215A>G NCBI36
NG_033900.1:g.150816A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.710A>G MANE Select NP_060496.2:p.Asn237Ser
ENST00000320580.9:c.710A>G MANE Select ENSP00000316454.4:p.Asn237Ser
NM_018026.3:c.710A>G NP_060496.2:p.Asn237Ser
ENST00000320580.8:c.710A>G ENSP00000316454.4:p.Asn237Ser
ENST00000527224.1:n.834A>G
ENST00000527380.1:c.416A>G ENSP00000432639.1:p.Asn139Ser
XM_011545162.1:c.389A>G XP_011543464.1:p.Asn130Ser
XM_011545163.1:c.380A>G XP_011543465.1:p.Asn127Ser
XM_011545164.1:c.371A>G XP_011543466.1:p.Asn124Ser
XM_011545164.2:c.371A>G XP_011543466.1:p.Asn124Ser
XR_001747924.1:n.921A>G