Canonical Allele Identifier: CA390476672

Gene: ESRRB

Linked Data

• gnomAD v4: 14-76462586-A-C
• MyVariant Identifiers: chr14:g.76928929A>C (hg19) ; chr14:g.76462586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76462586A>C , CM000676.2:g.76462586A>C	GRCh38
NC_000014.8:g.76928929A>C , CM000676.1:g.76928929A>C	GRCh37
NC_000014.7:g.75998682A>C	NCBI36
NG_012278.1:g.96240A>C
NG_012278.2:g.96240A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.439A>C	ENSP00000370270.2:p.Ile147Leu
ENST00000505752.6:c.439A>C	ENSP00000423004.1:p.Ile147Leu
ENST00000512784.6:c.454A>C	ENSP00000424992.2:p.Ile152Leu
ENST00000644823.1:c.502A>C MANE Select	ENSP00000493776.1:p.Ile168Leu
ENST00000380887.6:c.439A>C	ENSP00000370270.2:p.Ile147Leu
ENST00000505752.5:c.439A>C	ENSP00000423004.1:p.Ile147Leu
ENST00000507951.5:n.547A>C
ENST00000509242.5:c.439A>C	ENSP00000422488.1:p.Ile147Leu
ENST00000509323.1:n.151A>C
ENST00000512784.5:c.454A>C	ENSP00000424992.1:p.Ile152Leu
ENST00000556177.1:c.439A>C	ENSP00000451658.1:p.Ile147Leu
NM_004452.3:c.439A>C	NP_004443.3:p.Ile147Leu
XM_005267404.2:c.502A>C	XP_005267461.1:p.Ile168Leu
XM_011536547.1:c.502A>C	XP_011534849.1:p.Ile168Leu
XM_011536548.1:c.439A>C	XP_011534850.1:p.Ile147Leu
XM_011536549.1:c.439A>C	XP_011534851.1:p.Ile147Leu
XM_011536550.1:c.439A>C	XP_011534852.1:p.Ile147Leu
XM_011536551.1:c.439A>C	XP_011534853.1:p.Ile147Leu
XM_011536552.1:c.439A>C	XP_011534854.1:p.Ile147Leu
XM_011536553.1:c.502A>C	XP_011534855.1:p.Ile168Leu
XM_011536554.1:c.502A>C	XP_011534856.1:p.Ile168Leu
XR_943401.1:n.749A>C
XM_011536547.2:c.502A>C	XP_011534849.1:p.Ile168Leu
XM_011536550.2:c.439A>C	XP_011534852.1:p.Ile147Leu
XM_011536553.2:c.502A>C	XP_011534855.1:p.Ile168Leu
XM_011536554.2:c.502A>C	XP_011534856.1:p.Ile168Leu
XM_017021085.1:c.439A>C	XP_016876574.1:p.Ile147Leu
XM_024449508.1:c.502A>C	XP_024305276.1:p.Ile168Leu
XM_024449509.1:c.439A>C	XP_024305277.1:p.Ile147Leu
XR_001750189.1:n.972A>C
XR_943401.2:n.972A>C
NM_001379180.1:c.502A>C MANE Select	NP_001366109.1:p.Ile168Leu
NM_004452.4:c.439A>C	NP_004443.3:p.Ile147Leu