Canonical Allele Identifier: CA390480068

Gene: ESRRB

Linked Data

• MyVariant Identifiers: chr14:g.76966277C>A (hg19) ; chr14:g.76499934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76499934C>A , CM000676.2:g.76499934C>A	GRCh38
NC_000014.8:g.76966277C>A , CM000676.1:g.76966277C>A	GRCh37
NC_000014.7:g.76036030C>A	NCBI36
NG_012278.1:g.133588C>A
NG_012278.2:g.133588C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.1368C>A	ENSP00000370270.2:p.Phe456Leu
ENST00000505752.6:c.*52C>A	ENSP00000423004.1:n.*52C>A
ENST00000644823.1:c.*1476C>A MANE Select	ENSP00000493776.1:n.*1476C>A
ENST00000380887.6:c.1368C>A	ENSP00000370270.2:p.Phe456Leu
ENST00000505752.5:c.*52C>A	ENSP00000423004.1:n.*52C>A
ENST00000509242.5:c.1368C>A	ENSP00000422488.1:p.Phe456Leu
ENST00000512784.5:c.1383C>A	ENSP00000424992.1:p.Phe461Leu
ENST00000611036.1:n.289C>A
NM_004452.3:c.1368C>A	NP_004443.3:p.Phe456Leu
XM_011536547.1:c.1431C>A	XP_011534849.1:p.Phe477Leu
XM_011536548.1:c.1368C>A	XP_011534850.1:p.Phe456Leu
XM_011536549.1:c.1368C>A	XP_011534851.1:p.Phe456Leu
XM_011536550.1:c.1368C>A	XP_011534852.1:p.Phe456Leu
XM_011536551.1:c.1368C>A	XP_011534853.1:p.Phe456Leu
XM_011536552.1:c.1368C>A	XP_011534854.1:p.Phe456Leu
XM_011536553.1:c.*972C>A	XP_011534855.1:n.*972C>A
XM_011536554.1:c.1431C>A	XP_011534856.1:p.Phe477Leu
XM_011536555.1:c.690C>A	XP_011534857.1:p.Phe230Leu
XR_943401.1:n.1865C>A
XR_944039.1:n.144+2223G>T
XM_011536547.2:c.1431C>A	XP_011534849.1:p.Phe477Leu
XM_011536550.2:c.1368C>A	XP_011534852.1:p.Phe456Leu
XM_011536553.2:c.*972C>A	XP_011534855.1:n.*972C>A
XM_011536554.2:c.1431C>A	XP_011534856.1:p.Phe477Leu
XM_017021085.1:c.1368C>A	XP_016876574.1:p.Phe456Leu
XM_024449508.1:c.*52C>A	XP_024305276.1:n.*52C>A
XM_024449509.1:c.1368C>A	XP_024305277.1:p.Phe456Leu
XR_001750189.1:n.2650C>A
XR_943401.2:n.2088C>A
NM_001379180.1:c.*1476C>A MANE Select	NP_001366109.1:n.*1476C>A
NM_004452.4:c.1368C>A	NP_004443.3:p.Phe456Leu