Canonical Allele Identifier: CA2649710382

Gene: NR5A2

Linked Data

• gnomAD v4: 1-200121101-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200121101T>C , CM000663.2:g.200121101T>C	GRCh38
NC_000001.10:g.200090229T>C , CM000663.1:g.200090229T>C	GRCh37
NC_000001.9:g.198356852T>C	NCBI36
NG_050913.1:g.98500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.1378+146T>C MANE Select	ENSP00000356331.3:n.1378+146T>C
ENST00000236914.7:c.1240+146T>C	ENSP00000236914.3:n.1240+146T>C
ENST00000367362.7:c.1378+146T>C	ENSP00000356331.3:n.1378+146T>C
ENST00000544748.5:c.1162+146T>C	ENSP00000439116.1:n.1162+146T>C
NM_001276464.1:c.1162+146T>C	NP_001263393.1:n.1162+146T>C
NM_003822.4:c.1240+146T>C	NP_003813.1:n.1240+146T>C
NM_205860.2:c.1378+146T>C	NP_995582.1:n.1378+146T>C
XM_005245062.2:c.1162+146T>C	XP_005245119.1:n.1162+146T>C
XM_011509380.1:c.1258+146T>C	XP_011507682.1:n.1258+146T>C
XM_011509381.1:c.1258+146T>C	XP_011507683.1:n.1258+146T>C
XM_011509382.1:c.1162+146T>C	XP_011507684.1:n.1162+146T>C
XM_011509383.1:c.1162+146T>C	XP_011507685.1:n.1162+146T>C
XM_011509384.1:c.1258+146T>C	XP_011507686.1:n.1258+146T>C
XM_005245062.3:c.1162+146T>C	XP_005245119.1:n.1162+146T>C
XM_011509381.3:c.1258+146T>C	XP_011507683.1:n.1258+146T>C
XM_011509384.2:c.1258+146T>C	XP_011507686.1:n.1258+146T>C
XM_017000904.1:c.1258+146T>C	XP_016856393.1:n.1258+146T>C
NM_205860.3:c.1378+146T>C MANE Select	NP_995582.1:n.1378+146T>C
NM_003822.5:c.1240+146T>C	NP_003813.1:n.1240+146T>C
NM_001276464.2:c.1162+146T>C	NP_001263393.1:n.1162+146T>C