Canonical Allele Identifier: CA615081459

Gene: ESRRB

Linked Data

• dbSNP Id: rs1382301668
• gnomAD v2: 14-76967581-T-C
• gnomAD v3: 14-76501238-T-C
• gnomAD v4: 14-76501238-T-C
• MyVariant Identifiers: chr14:g.76967581T>C (hg19) ; chr14:g.76501238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76501238T>C , CM000676.2:g.76501238T>C	GRCh38
NC_000014.8:g.76967581T>C , CM000676.1:g.76967581T>C	GRCh37
NC_000014.7:g.76037334T>C	NCBI36
NG_012278.1:g.134892T>C
NG_012278.2:g.134892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.*517T>C	ENSP00000370270.2:n.*517T>C
ENST00000644823.1:c.*2780T>C MANE Select	ENSP00000493776.1:n.*2780T>C
ENST00000380887.6:c.*517T>C	ENSP00000370270.2:n.*517T>C
ENST00000509242.5:c.*517T>C	ENSP00000422488.1:n.*517T>C
ENST00000611036.1:n.1593T>C
NM_004452.3:c.*517T>C	NP_004443.3:n.*517T>C
XM_011536547.1:c.*1013T>C	XP_011534849.1:n.*1013T>C
XM_011536548.1:c.*1013T>C	XP_011534850.1:n.*1013T>C
XM_011536549.1:c.*1013T>C	XP_011534851.1:n.*1013T>C
XM_011536550.1:c.*1013T>C	XP_011534852.1:n.*1013T>C
XM_011536551.1:c.*1013T>C	XP_011534853.1:n.*1013T>C
XM_011536552.1:c.*1013T>C	XP_011534854.1:n.*1013T>C
XM_011536553.1:c.*2276T>C	XP_011534855.1:n.*2276T>C
XM_011536554.1:c.*517T>C	XP_011534856.1:n.*517T>C
XM_011536555.1:c.*1013T>C	XP_011534857.1:n.*1013T>C
XR_943401.1:n.2541T>C
XR_944039.1:n.144+919A>G
XM_011536547.2:c.*1013T>C	XP_011534849.1:n.*1013T>C
XM_011536550.2:c.*1013T>C	XP_011534852.1:n.*1013T>C
XM_011536553.2:c.*2276T>C	XP_011534855.1:n.*2276T>C
XM_011536554.2:c.*517T>C	XP_011534856.1:n.*517T>C
XM_017021085.1:c.*1013T>C	XP_016876574.1:n.*1013T>C
XM_024449508.1:c.*1356T>C	XP_024305276.1:n.*1356T>C
XM_024449509.1:c.*517T>C	XP_024305277.1:n.*517T>C
XR_943401.2:n.2764T>C
NM_001379180.1:c.*2780T>C MANE Select	NP_001366109.1:n.*2780T>C
NM_004452.4:c.*517T>C	NP_004443.3:n.*517T>C