Canonical Allele Identifier: CA675870831

Gene: PAMR1

Linked Data

• dbSNP Id: rs1280447489
• gnomAD v3: 11-35489358-T-C
• gnomAD v4: 11-35489358-T-C
• MyVariant Identifiers: chr11:g.35510906T>C (hg19) ; chr11:g.35489358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35489358T>C , CM000673.2:g.35489358T>C	GRCh38
NC_000011.9:g.35510906T>C , CM000673.1:g.35510906T>C	GRCh37
NC_000011.8:g.35467482T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000619888.5:c.379+2687A>G MANE Select	ENSP00000483703.1:n.379+2687A>G
ENST00000527605.5:c.259+2687A>G	ENSP00000432591.1:n.259+2687A>G
ENST00000529303.1:c.379+2687A>G	ENSP00000433024.1:n.379+2687A>G
ENST00000534803.1:n.391+2687A>G
ENST00000611014.4:c.-532+2687A>G	ENSP00000478867.1:n.-532+2687A>G
ENST00000615849.4:c.379+2687A>G	ENSP00000479260.1:n.379+2687A>G
ENST00000619888.4:c.379+2687A>G	ENSP00000483703.1:n.379+2687A>G
ENST00000621476.4:c.259+2687A>G	ENSP00000480961.1:n.259+2687A>G
ENST00000622144.4:c.379+2687A>G	ENSP00000482899.1:n.379+2687A>G
NM_001001991.2:c.379+2687A>G	NP_001001991.1:n.379+2687A>G
NM_001282675.1:c.259+2687A>G	NP_001269604.1:n.259+2687A>G
NM_001282676.1:c.379+2687A>G	NP_001269605.1:n.379+2687A>G
NM_015430.3:c.379+2687A>G	NP_056245.2:n.379+2687A>G
NM_001001991.3:c.379+2687A>G MANE Select	NP_001001991.1:n.379+2687A>G
NM_015430.4:c.379+2687A>G	NP_056245.2:n.379+2687A>G
NM_001282675.2:c.259+2687A>G	NP_001269604.1:n.259+2687A>G
NM_001282676.2:c.379+2687A>G	NP_001269605.1:n.379+2687A>G