Canonical Allele Identifier: CA381342540

Gene: PACS1

Linked Data

• MyVariant Identifiers: chr11:g.65978684T>G (hg19) ; chr11:g.66211213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211213T>G , CM000673.2:g.66211213T>G	GRCh38
NC_000011.9:g.65978684T>G , CM000673.1:g.65978684T>G	GRCh37
NC_000011.8:g.65735260T>G	NCBI36
NG_033900.1:g.145861T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.614T>G MANE Select	ENSP00000316454.4:p.Ile205Ser
ENST00000320580.8:c.614T>G	ENSP00000316454.4:p.Ile205Ser
ENST00000527224.1:n.738T>G
ENST00000527380.1:c.320T>G	ENSP00000432639.1:p.Ile107Ser
ENST00000533756.5:c.305T>G	ENSP00000437150.1:p.Ile102Ser
NM_018026.3:c.614T>G	NP_060496.2:p.Ile205Ser
XM_011545162.1:c.293T>G	XP_011543464.1:p.Ile98Ser
XM_011545163.1:c.284T>G	XP_011543465.1:p.Ile95Ser
XM_011545164.1:c.275T>G	XP_011543466.1:p.Ile92Ser
XM_011545164.2:c.275T>G	XP_011543466.1:p.Ile92Ser
XR_001747924.1:n.825T>G
NM_018026.4:c.614T>G MANE Select	NP_060496.2:p.Ile205Ser