Canonical Allele Identifier: CA2625798148

Gene: ESRRB

Linked Data

• gnomAD v4: 14-76501234-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76501234A>C , CM000676.2:g.76501234A>C	GRCh38
NC_000014.8:g.76967577A>C , CM000676.1:g.76967577A>C	GRCh37
NC_000014.7:g.76037330A>C	NCBI36
NG_012278.1:g.134888A>C
NG_012278.2:g.134888A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.*513A>C	ENSP00000370270.2:n.*513A>C
ENST00000644823.1:c.*2776A>C MANE Select	ENSP00000493776.1:n.*2776A>C
ENST00000380887.6:c.*513A>C	ENSP00000370270.2:n.*513A>C
ENST00000509242.5:c.*513A>C	ENSP00000422488.1:n.*513A>C
ENST00000611036.1:n.1589A>C
NM_004452.3:c.*513A>C	NP_004443.3:n.*513A>C
XM_011536547.1:c.*1009A>C	XP_011534849.1:n.*1009A>C
XM_011536548.1:c.*1009A>C	XP_011534850.1:n.*1009A>C
XM_011536549.1:c.*1009A>C	XP_011534851.1:n.*1009A>C
XM_011536550.1:c.*1009A>C	XP_011534852.1:n.*1009A>C
XM_011536551.1:c.*1009A>C	XP_011534853.1:n.*1009A>C
XM_011536552.1:c.*1009A>C	XP_011534854.1:n.*1009A>C
XM_011536553.1:c.*2272A>C	XP_011534855.1:n.*2272A>C
XM_011536554.1:c.*513A>C	XP_011534856.1:n.*513A>C
XM_011536555.1:c.*1009A>C	XP_011534857.1:n.*1009A>C
XR_943401.1:n.2537A>C
XR_944039.1:n.144+923T>G
XM_011536547.2:c.*1009A>C	XP_011534849.1:n.*1009A>C
XM_011536550.2:c.*1009A>C	XP_011534852.1:n.*1009A>C
XM_011536553.2:c.*2272A>C	XP_011534855.1:n.*2272A>C
XM_011536554.2:c.*513A>C	XP_011534856.1:n.*513A>C
XM_017021085.1:c.*1009A>C	XP_016876574.1:n.*1009A>C
XM_024449508.1:c.*1352A>C	XP_024305276.1:n.*1352A>C
XM_024449509.1:c.*513A>C	XP_024305277.1:n.*513A>C
XR_943401.2:n.2760A>C
NM_001379180.1:c.*2776A>C MANE Select	NP_001366109.1:n.*2776A>C
NM_004452.4:c.*513A>C	NP_004443.3:n.*513A>C