Canonical Allele Identifier: CA598524145

Gene: PAMR1

Linked Data

• dbSNP Id: rs1216612547
• gnomAD v2: 11-35510788-C-A
• gnomAD v3: 11-35489240-C-A
• gnomAD v4: 11-35489240-C-A
• MyVariant Identifiers: chr11:g.35510788C>A (hg19) ; chr11:g.35489240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35489240C>A , CM000673.2:g.35489240C>A	GRCh38
NC_000011.9:g.35510788C>A , CM000673.1:g.35510788C>A	GRCh37
NC_000011.8:g.35467364C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000619888.5:c.379+2805G>T MANE Select	ENSP00000483703.1:n.379+2805G>T
ENST00000527605.5:c.259+2805G>T	ENSP00000432591.1:n.259+2805G>T
ENST00000529303.1:c.379+2805G>T	ENSP00000433024.1:n.379+2805G>T
ENST00000534803.1:n.391+2805G>T
ENST00000611014.4:c.-532+2805G>T	ENSP00000478867.1:n.-532+2805G>T
ENST00000615849.4:c.379+2805G>T	ENSP00000479260.1:n.379+2805G>T
ENST00000619888.4:c.379+2805G>T	ENSP00000483703.1:n.379+2805G>T
ENST00000621476.4:c.259+2805G>T	ENSP00000480961.1:n.259+2805G>T
ENST00000622144.4:c.379+2805G>T	ENSP00000482899.1:n.379+2805G>T
NM_001001991.2:c.379+2805G>T	NP_001001991.1:n.379+2805G>T
NM_001282675.1:c.259+2805G>T	NP_001269604.1:n.259+2805G>T
NM_001282676.1:c.379+2805G>T	NP_001269605.1:n.379+2805G>T
NM_015430.3:c.379+2805G>T	NP_056245.2:n.379+2805G>T
NM_001001991.3:c.379+2805G>T MANE Select	NP_001001991.1:n.379+2805G>T
NM_015430.4:c.379+2805G>T	NP_056245.2:n.379+2805G>T
NM_001282675.2:c.259+2805G>T	NP_001269604.1:n.259+2805G>T
NM_001282676.2:c.379+2805G>T	NP_001269605.1:n.379+2805G>T