Canonical Allele Identifier: CA381342572
Gene: PACS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66211216T>G , CM000673.2:g.66211216T>G GRCh38
NC_000011.9:g.65978687T>G , CM000673.1:g.65978687T>G GRCh37
NC_000011.8:g.65735263T>G NCBI36
NG_033900.1:g.145864T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320580.9:c.617T>G MANE Select ENSP00000316454.4:p.Leu206Trp
ENST00000320580.8:c.617T>G ENSP00000316454.4:p.Leu206Trp
ENST00000527224.1:n.741T>G
ENST00000527380.1:c.323T>G ENSP00000432639.1:p.Leu108Trp
ENST00000533756.5:c.308T>G ENSP00000437150.1:p.Leu103Trp
NM_018026.3:c.617T>G NP_060496.2:p.Leu206Trp
XM_011545162.1:c.296T>G XP_011543464.1:p.Leu99Trp
XM_011545163.1:c.287T>G XP_011543465.1:p.Leu96Trp
XM_011545164.1:c.278T>G XP_011543466.1:p.Leu93Trp
XM_011545164.2:c.278T>G XP_011543466.1:p.Leu93Trp
XR_001747924.1:n.828T>G
NM_018026.4:c.617T>G MANE Select NP_060496.2:p.Leu206Trp