Canonical Allele Identifier: CA9507595

Gene: RELB

Linked Data

• ClinVar Variation Id: 1363291
• ClinVar RCV Id: RCV001902175 ; RCV004039834
• dbSNP Id: rs761385917
• ExAC: 19:45525419 G / A
• gnomAD v2: 19-45525419-G-A
• gnomAD v3: 19-45022161-G-A
• gnomAD v4: 19-45022161-G-A
• COSMIC: COSM998116
• MyVariant Identifiers: chr19:g.45525419G>A (hg19) ; chr19:g.45022161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45022161G>A , CM000681.2:g.45022161G>A	GRCh38
NC_000019.9:g.45525419G>A , CM000681.1:g.45525419G>A	GRCh37
NC_000019.8:g.50217259G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505236.2:c.604G>A	ENSP00000423287.1:p.Asp202Asn
ENST00000700471.1:c.343-3168G>A	ENSP00000515004.1:n.343-3168G>A
ENST00000221452.13:c.613G>A MANE Select	ENSP00000221452.7:p.Asp205Asn
ENST00000221452.12:c.613G>A	ENSP00000221452.7:p.Asp205Asn
ENST00000505236.1:c.604G>A	ENSP00000423287.1:p.Asp202Asn
ENST00000510184.1:n.332G>A
ENST00000625761.2:c.613G>A	ENSP00000485826.1:p.Asp205Asn
NM_006509.3:c.613G>A	NP_006500.2:p.Asp205Asn
XM_005259127.2:c.604G>A	XP_005259184.1:p.Asp202Asn
XM_005259128.2:c.613G>A	XP_005259185.1:p.Asp205Asn
XM_005259127.3:c.604G>A	XP_005259184.1:p.Asp202Asn
NM_006509.4:c.613G>A MANE Select	NP_006500.2:p.Asp205Asn