Canonical Allele Identifier: CA381342550

Gene: PACS1

Linked Data

• gnomAD v4: 11-66211214-C-G
• MyVariant Identifiers: chr11:g.65978685C>G (hg19) ; chr11:g.66211214C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211214C>G , CM000673.2:g.66211214C>G	GRCh38
NC_000011.9:g.65978685C>G , CM000673.1:g.65978685C>G	GRCh37
NC_000011.8:g.65735261C>G	NCBI36
NG_033900.1:g.145862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.615C>G MANE Select	ENSP00000316454.4:p.Ile205Met
ENST00000320580.8:c.615C>G	ENSP00000316454.4:p.Ile205Met
ENST00000527224.1:n.739C>G
ENST00000527380.1:c.321C>G	ENSP00000432639.1:p.Ile107Met
ENST00000533756.5:c.306C>G	ENSP00000437150.1:p.Ile102Met
NM_018026.3:c.615C>G	NP_060496.2:p.Ile205Met
XM_011545162.1:c.294C>G	XP_011543464.1:p.Ile98Met
XM_011545163.1:c.285C>G	XP_011543465.1:p.Ile95Met
XM_011545164.1:c.276C>G	XP_011543466.1:p.Ile92Met
XM_011545164.2:c.276C>G	XP_011543466.1:p.Ile92Met
XR_001747924.1:n.826C>G
NM_018026.4:c.615C>G MANE Select	NP_060496.2:p.Ile205Met