Canonical Allele Identifier: CA390479108

Gene: ESRRB

Linked Data

• gnomAD v4: 14-76491596-C-A
• COSMIC: COSM5966254 ; COSM5966255
• MyVariant Identifiers: chr14:g.76957939C>A (hg19) ; chr14:g.76491596C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76491596C>A , CM000676.2:g.76491596C>A	GRCh38
NC_000014.8:g.76957939C>A , CM000676.1:g.76957939C>A	GRCh37
NC_000014.7:g.76027692C>A	NCBI36
NG_012278.1:g.125250C>A
NG_012278.2:g.125250C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.937C>A	ENSP00000370270.2:p.Arg313Ser
ENST00000505752.6:c.937C>A	ENSP00000423004.1:p.Arg313Ser
ENST00000512784.6:c.952C>A	ENSP00000424992.2:p.Arg318Ser
ENST00000644823.1:c.1000C>A MANE Select	ENSP00000493776.1:p.Arg334Ser
ENST00000380887.6:c.937C>A	ENSP00000370270.2:p.Arg313Ser
ENST00000505752.5:c.937C>A	ENSP00000423004.1:p.Arg313Ser
ENST00000509242.5:c.937C>A	ENSP00000422488.1:p.Arg313Ser
ENST00000512784.5:c.952C>A	ENSP00000424992.1:p.Arg318Ser
ENST00000556177.1:c.937C>A	ENSP00000451658.1:p.Arg313Ser
NM_004452.3:c.937C>A	NP_004443.3:p.Arg313Ser
XM_005267404.2:c.1000C>A	XP_005267461.1:p.Arg334Ser
XM_011536547.1:c.1000C>A	XP_011534849.1:p.Arg334Ser
XM_011536548.1:c.937C>A	XP_011534850.1:p.Arg313Ser
XM_011536549.1:c.937C>A	XP_011534851.1:p.Arg313Ser
XM_011536550.1:c.937C>A	XP_011534852.1:p.Arg313Ser
XM_011536551.1:c.937C>A	XP_011534853.1:p.Arg313Ser
XM_011536552.1:c.937C>A	XP_011534854.1:p.Arg313Ser
XM_011536553.1:c.1000C>A	XP_011534855.1:p.Arg334Ser
XM_011536554.1:c.1000C>A	XP_011534856.1:p.Arg334Ser
XM_011536555.1:c.259C>A	XP_011534857.1:p.Arg87Ser
XR_943401.1:n.1247C>A
XR_944039.1:n.144+10561G>T
XM_011536547.2:c.1000C>A	XP_011534849.1:p.Arg334Ser
XM_011536550.2:c.937C>A	XP_011534852.1:p.Arg313Ser
XM_011536553.2:c.1000C>A	XP_011534855.1:p.Arg334Ser
XM_011536554.2:c.1000C>A	XP_011534856.1:p.Arg334Ser
XM_017021085.1:c.937C>A	XP_016876574.1:p.Arg313Ser
XM_024449508.1:c.1000C>A	XP_024305276.1:p.Arg334Ser
XM_024449509.1:c.937C>A	XP_024305277.1:p.Arg313Ser
XR_001750189.1:n.1470C>A
XR_943401.2:n.1470C>A
NM_001379180.1:c.1000C>A MANE Select	NP_001366109.1:p.Arg334Ser
NM_004452.4:c.937C>A	NP_004443.3:p.Arg313Ser