Canonical Allele Identifier: CA1031313126
Gene: REL HGNC NCBI

Linked Data

dbSNP Id: rs1673388088
gnomAD v3: 2-60897770-T-A
gnomAD v4: 2-60897770-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.60897770T>A , CM000664.2:g.60897770T>A GRCh38
NC_000002.11:g.61124905T>A , CM000664.1:g.61124905T>A GRCh37
NC_000002.10:g.60978409T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000699191.1:c.303-3222T>A ENSP00000514191.1:n.303-3222T>A
ENST00000699192.1:c.303-3222T>A ENSP00000514192.1:n.303-3222T>A
ENST00000699193.1:c.302+3225T>A ENSP00000514193.1:n.302+3225T>A
ENST00000699194.1:n.254-3222T>A
ENST00000394479.4:c.303-3222T>A MANE Select ENSP00000377989.4:n.303-3222T>A
ENST00000642725.1:c.150-1200T>A ENSP00000496299.1:n.150-1200T>A
ENST00000295025.12:c.303-3222T>A ENSP00000295025.7:n.303-3222T>A
ENST00000394479.3:c.303-3222T>A ENSP00000377989.3:n.303-3222T>A
NM_001291746.1:c.303-3222T>A NP_001278675.1:n.303-3222T>A
NM_002908.3:c.303-3222T>A NP_002899.1:n.303-3222T>A
XM_017004627.2:c.303-3222T>A XP_016860116.1:n.303-3222T>A
NM_001291746.2:c.303-3222T>A MANE Select NP_001278675.1:n.303-3222T>A
NM_002908.4:c.303-3222T>A NP_002899.1:n.303-3222T>A