Canonical Allele Identifier: CA381383223

Gene: PACS1

Linked Data

• gnomAD v4: 11-66241622-G-T
• MyVariant Identifiers: chr11:g.66009093G>T (hg19) ; chr11:g.66241622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241622G>T , CM000673.2:g.66241622G>T	GRCh38
NC_000011.9:g.66009093G>T , CM000673.1:g.66009093G>T	GRCh37
NC_000011.8:g.65765669G>T	NCBI36
NG_033900.1:g.176270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2625G>T MANE Select	ENSP00000316454.4:p.Met875Ile
ENST00000320580.8:c.2625G>T	ENSP00000316454.4:p.Met875Ile
ENST00000524815.5:c.9G>T	ENSP00000433991.1:p.Met3Ile
ENST00000529677.1:c.175G>T
ENST00000529757.5:c.1233G>T	ENSP00000432858.1:p.Met411Ile
ENST00000531597.1:c.9G>T	ENSP00000434012.1:p.Met3Ile
NM_018026.3:c.2625G>T	NP_060496.2:p.Met875Ile
XM_011545162.1:c.2304G>T	XP_011543464.1:p.Met768Ile
XM_011545163.1:c.2295G>T	XP_011543465.1:p.Met765Ile
XM_011545164.1:c.2286G>T	XP_011543466.1:p.Met762Ile
XM_011545164.2:c.2286G>T	XP_011543466.1:p.Met762Ile
NM_018026.4:c.2625G>T MANE Select	NP_060496.2:p.Met875Ile