Canonical Allele Identifier: CA708645063

Gene: ESRRB

Linked Data

• dbSNP Id: rs1376464716
• gnomAD v4: 14-76501337-G-A
• MyVariant Identifiers: chr14:g.76967680G>A (hg19) ; chr14:g.76501337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76501337G>A , CM000676.2:g.76501337G>A	GRCh38
NC_000014.8:g.76967680G>A , CM000676.1:g.76967680G>A	GRCh37
NC_000014.7:g.76037433G>A	NCBI36
NG_012278.1:g.134991G>A
NG_012278.2:g.134991G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.*616G>A	ENSP00000370270.2:n.*616G>A
ENST00000644823.1:c.*2879G>A MANE Select	ENSP00000493776.1:n.*2879G>A
ENST00000380887.6:c.*616G>A	ENSP00000370270.2:n.*616G>A
ENST00000509242.5:c.*616G>A	ENSP00000422488.1:n.*616G>A
ENST00000611036.1:n.1692G>A
NM_004452.3:c.*616G>A	NP_004443.3:n.*616G>A
XM_011536547.1:c.*1112G>A	XP_011534849.1:n.*1112G>A
XM_011536548.1:c.*1112G>A	XP_011534850.1:n.*1112G>A
XM_011536549.1:c.*1112G>A	XP_011534851.1:n.*1112G>A
XM_011536550.1:c.*1112G>A	XP_011534852.1:n.*1112G>A
XM_011536551.1:c.*1112G>A	XP_011534853.1:n.*1112G>A
XM_011536552.1:c.*1112G>A	XP_011534854.1:n.*1112G>A
XM_011536553.1:c.*2375G>A	XP_011534855.1:n.*2375G>A
XM_011536554.1:c.*616G>A	XP_011534856.1:n.*616G>A
XM_011536555.1:c.*1112G>A	XP_011534857.1:n.*1112G>A
XR_943401.1:n.2640G>A
XR_944039.1:n.144+820C>T
XM_011536547.2:c.*1112G>A	XP_011534849.1:n.*1112G>A
XM_011536550.2:c.*1112G>A	XP_011534852.1:n.*1112G>A
XM_011536553.2:c.*2375G>A	XP_011534855.1:n.*2375G>A
XM_011536554.2:c.*616G>A	XP_011534856.1:n.*616G>A
XM_017021085.1:c.*1112G>A	XP_016876574.1:n.*1112G>A
XM_024449508.1:c.*1455G>A	XP_024305276.1:n.*1455G>A
XM_024449509.1:c.*616G>A	XP_024305277.1:n.*616G>A
XR_943401.2:n.2863G>A
NM_001379180.1:c.*2879G>A MANE Select	NP_001366109.1:n.*2879G>A
NM_004452.4:c.*616G>A	NP_004443.3:n.*616G>A