Canonical Allele Identifier: CA2580067566

Gene: REL

Linked Data

• ClinVar Variation Id: 2089028
• ClinVar RCV Id: RCV003011939
• gnomAD v4: 2-60920490-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60920490C>A , CM000664.2:g.60920490C>A	GRCh38
NC_000002.11:g.61147625C>A , CM000664.1:g.61147625C>A	GRCh37
NC_000002.10:g.61001129C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699191.1:c.922+381C>A	ENSP00000514191.1:n.922+381C>A
ENST00000699192.1:c.913+381C>A	ENSP00000514192.1:n.913+381C>A
ENST00000699193.1:c.*902C>A	ENSP00000514193.1:n.*902C>A
ENST00000699194.1:n.2688C>A
ENST00000699195.1:n.3207C>A
ENST00000394479.4:c.923-84C>A MANE Select	ENSP00000377989.4:n.923-84C>A
ENST00000295025.12:c.1018+12C>A	ENSP00000295025.7:n.1018+12C>A
ENST00000394479.3:c.923-84C>A	ENSP00000377989.3:n.923-84C>A
NM_001291746.1:c.923-84C>A	NP_001278675.1:n.923-84C>A
NM_002908.3:c.1018+12C>A	NP_002899.1:n.1018+12C>A
XM_011533010.1:c.629-84C>A	XP_011531312.1:n.629-84C>A
XM_011533010.3:c.629-84C>A	XP_011531312.1:n.629-84C>A
XM_017004627.2:c.922+381C>A	XP_016860116.1:n.922+381C>A
NM_001291746.2:c.923-84C>A MANE Select	NP_001278675.1:n.923-84C>A
NM_002908.4:c.1018+12C>A	NP_002899.1:n.1018+12C>A