Canonical Allele Identifier: CA220560036
Gene: PAMR1 HGNC NCBI

Linked Data

dbSNP Id: rs1002587067

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35489360C>G , CM000673.2:g.35489360C>G GRCh38
NC_000011.9:g.35510908C>G , CM000673.1:g.35510908C>G GRCh37
NC_000011.8:g.35467484C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000619888.5:c.379+2685G>C MANE Select ENSP00000483703.1:n.379+2685G>C
ENST00000527605.5:c.259+2685G>C ENSP00000432591.1:n.259+2685G>C
ENST00000529303.1:c.379+2685G>C ENSP00000433024.1:n.379+2685G>C
ENST00000534803.1:n.391+2685G>C
ENST00000611014.4:c.-532+2685G>C ENSP00000478867.1:n.-532+2685G>C
ENST00000615849.4:c.379+2685G>C ENSP00000479260.1:n.379+2685G>C
ENST00000619888.4:c.379+2685G>C ENSP00000483703.1:n.379+2685G>C
ENST00000621476.4:c.259+2685G>C ENSP00000480961.1:n.259+2685G>C
ENST00000622144.4:c.379+2685G>C ENSP00000482899.1:n.379+2685G>C
NM_001001991.2:c.379+2685G>C NP_001001991.1:n.379+2685G>C
NM_001282675.1:c.259+2685G>C NP_001269604.1:n.259+2685G>C
NM_001282676.1:c.379+2685G>C NP_001269605.1:n.379+2685G>C
NM_015430.3:c.379+2685G>C NP_056245.2:n.379+2685G>C
NM_001001991.3:c.379+2685G>C MANE Select NP_001001991.1:n.379+2685G>C
NM_015430.4:c.379+2685G>C NP_056245.2:n.379+2685G>C
NM_001282675.2:c.259+2685G>C NP_001269604.1:n.259+2685G>C
NM_001282676.2:c.379+2685G>C NP_001269605.1:n.379+2685G>C