Canonical Allele Identifier: CA475312686
Community Standard Title: NM_018026.4(PACS1):c.2541C>T (p.Asn847=)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66241538C>T , CM000673.2:g.66241538C>T GRCh38
NC_000011.9:g.66009009C>T , CM000673.1:g.66009009C>T GRCh37
NC_000011.8:g.65765585C>T NCBI36
NG_033900.1:g.176186C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.2541C>T MANE Select NP_060496.2:p.Asn847=
ENST00000320580.9:c.2541C>T MANE Select ENSP00000316454.4:p.Asn847=
NM_018026.3:c.2541C>T NP_060496.2:p.Asn847=
ENST00000320580.8:c.2541C>T ENSP00000316454.4:p.Asn847=
ENST00000524815.5:c.-76C>T ENSP00000433991.1:n.-76C>T
ENST00000525798.1:n.579C>T
ENST00000529677.1:c.91C>T
ENST00000529757.5:c.1149C>T ENSP00000432858.1:p.Asn383=
ENST00000531597.1:c.-76C>T ENSP00000434012.1:n.-76C>T
XM_011545162.1:c.2220C>T XP_011543464.1:p.Asn740=
XM_011545163.1:c.2211C>T XP_011543465.1:p.Asn737=
XM_011545164.1:c.2202C>T XP_011543466.1:p.Asn734=
XM_011545164.2:c.2202C>T XP_011543466.1:p.Asn734=