Canonical Allele Identifier: CA224039519

Gene: PACS1

Linked Data

• dbSNP Id: rs911956243
• gnomAD v4: 11-66241576-G-A
• MyVariant Identifiers: chr11:g.66009047G>A (hg19) ; chr11:g.66241576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241576G>A , CM000673.2:g.66241576G>A	GRCh38
NC_000011.9:g.66009047G>A , CM000673.1:g.66009047G>A	GRCh37
NC_000011.8:g.65765623G>A	NCBI36
NG_033900.1:g.176224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2579G>A MANE Select	ENSP00000316454.4:p.Arg860His
ENST00000320580.8:c.2579G>A	ENSP00000316454.4:p.Arg860His
ENST00000524815.5:c.-38G>A	ENSP00000433991.1:n.-38G>A
ENST00000529677.1:c.129G>A
ENST00000529757.5:c.1187G>A	ENSP00000432858.1:p.Arg396His
ENST00000531597.1:c.-38G>A	ENSP00000434012.1:n.-38G>A
NM_018026.3:c.2579G>A	NP_060496.2:p.Arg860His
XM_011545162.1:c.2258G>A	XP_011543464.1:p.Arg753His
XM_011545163.1:c.2249G>A	XP_011543465.1:p.Arg750His
XM_011545164.1:c.2240G>A	XP_011543466.1:p.Arg747His
XM_011545164.2:c.2240G>A	XP_011543466.1:p.Arg747His
NM_018026.4:c.2579G>A MANE Select	NP_060496.2:p.Arg860His