Canonical Allele Identifier: CA599857573

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66235408G>C , CM000673.2:g.66235408G>C	GRCh38
NC_000011.9:g.66002879G>C , CM000673.1:g.66002879G>C	GRCh37
NC_000011.8:g.65759455G>C	NCBI36
NG_033900.1:g.170056G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2207+5G>C MANE Select	NP_060496.2:n.2207+5G>C
ENST00000320580.9:c.2207+5G>C MANE Select	ENSP00000316454.4:n.2207+5G>C
NM_018026.3:c.2207+5G>C	NP_060496.2:n.2207+5G>C
ENST00000320580.8:c.2207+5G>C	ENSP00000316454.4:n.2207+5G>C
ENST00000529757.5:c.815+5G>C	ENSP00000432858.1:n.815+5G>C
ENST00000529795.1:n.339G>C
ENST00000676419.1:n.244+5G>C
XM_011545162.1:c.1886+5G>C	XP_011543464.1:n.1886+5G>C
XM_011545163.1:c.1877+5G>C	XP_011543465.1:n.1877+5G>C
XM_011545164.1:c.1868+5G>C	XP_011543466.1:n.1868+5G>C
XM_011545164.2:c.1868+5G>C	XP_011543466.1:n.1868+5G>C