Canonical Allele Identifier: CA381342553
Gene: PACS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66211215T>G , CM000673.2:g.66211215T>G GRCh38
NC_000011.9:g.65978686T>G , CM000673.1:g.65978686T>G GRCh37
NC_000011.8:g.65735262T>G NCBI36
NG_033900.1:g.145863T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320580.9:c.616T>G MANE Select ENSP00000316454.4:p.Leu206Val
ENST00000320580.8:c.616T>G ENSP00000316454.4:p.Leu206Val
ENST00000527224.1:n.740T>G
ENST00000527380.1:c.322T>G ENSP00000432639.1:p.Leu108Val
ENST00000533756.5:c.307T>G ENSP00000437150.1:p.Leu103Val
NM_018026.3:c.616T>G NP_060496.2:p.Leu206Val
XM_011545162.1:c.295T>G XP_011543464.1:p.Leu99Val
XM_011545163.1:c.286T>G XP_011543465.1:p.Leu96Val
XM_011545164.1:c.277T>G XP_011543466.1:p.Leu93Val
XM_011545164.2:c.277T>G XP_011543466.1:p.Leu93Val
XR_001747924.1:n.827T>G
NM_018026.4:c.616T>G MANE Select NP_060496.2:p.Leu206Val