Canonical Allele Identifier: CA381347094

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66216134A>C , CM000673.2:g.66216134A>C	GRCh38
NC_000011.9:g.65983605A>C , CM000673.1:g.65983605A>C	GRCh37
NC_000011.8:g.65740181A>C	NCBI36
NG_033900.1:g.150782A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.676A>C MANE Select	NP_060496.2:p.Asn226His
ENST00000320580.9:c.676A>C MANE Select	ENSP00000316454.4:p.Asn226His
NM_018026.3:c.676A>C	NP_060496.2:p.Asn226His
ENST00000320580.8:c.676A>C	ENSP00000316454.4:p.Asn226His
ENST00000527224.1:n.800A>C
ENST00000527380.1:c.382A>C	ENSP00000432639.1:p.Asn128His
XM_011545162.1:c.355A>C	XP_011543464.1:p.Asn119His
XM_011545163.1:c.346A>C	XP_011543465.1:p.Asn116His
XM_011545164.1:c.337A>C	XP_011543466.1:p.Asn113His
XM_011545164.2:c.337A>C	XP_011543466.1:p.Asn113His
XR_001747924.1:n.887A>C