Canonical Allele Identifier: CA381377931
Community Standard Title: NM_018026.4(PACS1):c.2299G>A (p.Gly767Arg)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66239147G>A , CM000673.2:g.66239147G>A GRCh38
NC_000011.9:g.66006618G>A , CM000673.1:g.66006618G>A GRCh37
NC_000011.8:g.65763194G>A NCBI36
NG_033900.1:g.173795G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.2299G>A MANE Select NP_060496.2:p.Gly767Arg
ENST00000320580.9:c.2299G>A MANE Select ENSP00000316454.4:p.Gly767Arg
NM_018026.3:c.2299G>A NP_060496.2:p.Gly767Arg
ENST00000320580.8:c.2299G>A ENSP00000316454.4:p.Gly767Arg
ENST00000525798.1:n.337G>A
ENST00000529757.5:c.907G>A ENSP00000432858.1:p.Gly303Arg
ENST00000676419.1:n.336G>A
XM_011545162.1:c.1978G>A XP_011543464.1:p.Gly660Arg
XM_011545163.1:c.1969G>A XP_011543465.1:p.Gly657Arg
XM_011545164.1:c.1960G>A XP_011543466.1:p.Gly654Arg
XM_011545164.2:c.1960G>A XP_011543466.1:p.Gly654Arg