Canonical Allele Identifier: CA6116683
Community Standard Title: NM_018026.4(PACS1):c.1838+3A>G
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66233069A>G , CM000673.2:g.66233069A>G GRCh38
NC_000011.9:g.66000540A>G , CM000673.1:g.66000540A>G GRCh37
NC_000011.8:g.65757116A>G NCBI36
NG_033900.1:g.167717A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.1838+3A>G MANE Select NP_060496.2:n.1838+3A>G
ENST00000320580.9:c.1838+3A>G MANE Select ENSP00000316454.4:n.1838+3A>G
NM_018026.3:c.1838+3A>G NP_060496.2:n.1838+3A>G
ENST00000320580.8:c.1838+3A>G ENSP00000316454.4:n.1838+3A>G
ENST00000528935.1:c.-20+3A>G ENSP00000437052.1:n.-20+3A>G
ENST00000529757.5:c.446+3A>G ENSP00000432858.1:n.446+3A>G
XM_011545162.1:c.1517+3A>G XP_011543464.1:n.1517+3A>G
XM_011545163.1:c.1508+3A>G XP_011543465.1:n.1508+3A>G
XM_011545164.1:c.1499+3A>G XP_011543466.1:n.1499+3A>G
XM_011545164.2:c.1499+3A>G XP_011543466.1:n.1499+3A>G