Canonical Allele Identifier: CA675870888

Gene: PAMR1

Linked Data

• dbSNP Id: rs910783393
• gnomAD v3: 11-35489466-T-A
• gnomAD v4: 11-35489466-T-A
• MyVariant Identifiers: chr11:g.35511014T>A (hg19) ; chr11:g.35489466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35489466T>A , CM000673.2:g.35489466T>A	GRCh38
NC_000011.9:g.35511014T>A , CM000673.1:g.35511014T>A	GRCh37
NC_000011.8:g.35467590T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619888.5:c.379+2579A>T MANE Select	ENSP00000483703.1:n.379+2579A>T
ENST00000527605.5:c.259+2579A>T	ENSP00000432591.1:n.259+2579A>T
ENST00000529303.1:c.379+2579A>T	ENSP00000433024.1:n.379+2579A>T
ENST00000534803.1:n.391+2579A>T
ENST00000611014.4:c.-532+2579A>T	ENSP00000478867.1:n.-532+2579A>T
ENST00000615849.4:c.379+2579A>T	ENSP00000479260.1:n.379+2579A>T
ENST00000619888.4:c.379+2579A>T	ENSP00000483703.1:n.379+2579A>T
ENST00000621476.4:c.259+2579A>T	ENSP00000480961.1:n.259+2579A>T
ENST00000622144.4:c.379+2579A>T	ENSP00000482899.1:n.379+2579A>T
NM_001001991.2:c.379+2579A>T	NP_001001991.1:n.379+2579A>T
NM_001282675.1:c.259+2579A>T	NP_001269604.1:n.259+2579A>T
NM_001282676.1:c.379+2579A>T	NP_001269605.1:n.379+2579A>T
NM_015430.3:c.379+2579A>T	NP_056245.2:n.379+2579A>T
NM_001001991.3:c.379+2579A>T MANE Select	NP_001001991.1:n.379+2579A>T
NM_015430.4:c.379+2579A>T	NP_056245.2:n.379+2579A>T
NM_001282675.2:c.259+2579A>T	NP_001269604.1:n.259+2579A>T
NM_001282676.2:c.379+2579A>T	NP_001269605.1:n.379+2579A>T