Canonical Allele Identifier: CA475300393

Gene: PACS1

Linked Data

• gnomAD v4: 11-66211211-C-T
• MyVariant Identifiers: chr11:g.65978682C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211211C>T , CM000673.2:g.66211211C>T	GRCh38
NC_000011.9:g.65978682C>T , CM000673.1:g.65978682C>T	GRCh37
NC_000011.8:g.65735258C>T	NCBI36
NG_033900.1:g.145859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.612C>T MANE Select	ENSP00000316454.4:p.Thr204=
ENST00000320580.8:c.612C>T	ENSP00000316454.4:p.Thr204=
ENST00000527224.1:n.736C>T
ENST00000527380.1:c.318C>T	ENSP00000432639.1:p.Thr106=
ENST00000533756.5:c.303C>T	ENSP00000437150.1:p.Thr101=
NM_018026.3:c.612C>T	NP_060496.2:p.Thr204=
XM_011545162.1:c.291C>T	XP_011543464.1:p.Thr97=
XM_011545163.1:c.282C>T	XP_011543465.1:p.Thr94=
XM_011545164.1:c.273C>T	XP_011543466.1:p.Thr91=
XM_011545164.2:c.273C>T	XP_011543466.1:p.Thr91=
XR_001747924.1:n.823C>T
NM_018026.4:c.612C>T MANE Select	NP_060496.2:p.Thr204=