Canonical Allele Identifier: CA615081461

Gene: ESRRB

Linked Data

• dbSNP Id: rs1319832757
• gnomAD v2: 14-76967607-G-C
• gnomAD v3: 14-76501264-G-C
• gnomAD v4: 14-76501264-G-C
• MyVariant Identifiers: chr14:g.76967607G>C (hg19) ; chr14:g.76501264G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76501264G>C , CM000676.2:g.76501264G>C	GRCh38
NC_000014.8:g.76967607G>C , CM000676.1:g.76967607G>C	GRCh37
NC_000014.7:g.76037360G>C	NCBI36
NG_012278.1:g.134918G>C
NG_012278.2:g.134918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.*543G>C	ENSP00000370270.2:n.*543G>C
ENST00000644823.1:c.*2806G>C MANE Select	ENSP00000493776.1:n.*2806G>C
ENST00000380887.6:c.*543G>C	ENSP00000370270.2:n.*543G>C
ENST00000509242.5:c.*543G>C	ENSP00000422488.1:n.*543G>C
ENST00000611036.1:n.1619G>C
NM_004452.3:c.*543G>C	NP_004443.3:n.*543G>C
XM_011536547.1:c.*1039G>C	XP_011534849.1:n.*1039G>C
XM_011536548.1:c.*1039G>C	XP_011534850.1:n.*1039G>C
XM_011536549.1:c.*1039G>C	XP_011534851.1:n.*1039G>C
XM_011536550.1:c.*1039G>C	XP_011534852.1:n.*1039G>C
XM_011536551.1:c.*1039G>C	XP_011534853.1:n.*1039G>C
XM_011536552.1:c.*1039G>C	XP_011534854.1:n.*1039G>C
XM_011536553.1:c.*2302G>C	XP_011534855.1:n.*2302G>C
XM_011536554.1:c.*543G>C	XP_011534856.1:n.*543G>C
XM_011536555.1:c.*1039G>C	XP_011534857.1:n.*1039G>C
XR_943401.1:n.2567G>C
XR_944039.1:n.144+893C>G
XM_011536547.2:c.*1039G>C	XP_011534849.1:n.*1039G>C
XM_011536550.2:c.*1039G>C	XP_011534852.1:n.*1039G>C
XM_011536553.2:c.*2302G>C	XP_011534855.1:n.*2302G>C
XM_011536554.2:c.*543G>C	XP_011534856.1:n.*543G>C
XM_017021085.1:c.*1039G>C	XP_016876574.1:n.*1039G>C
XM_024449508.1:c.*1382G>C	XP_024305276.1:n.*1382G>C
XM_024449509.1:c.*543G>C	XP_024305277.1:n.*543G>C
XR_943401.2:n.2790G>C
NM_001379180.1:c.*2806G>C MANE Select	NP_001366109.1:n.*2806G>C
NM_004452.4:c.*543G>C	NP_004443.3:n.*543G>C