Canonical Allele Identifier: CA35931055

Gene: NR5A2

Linked Data

• dbSNP Id: rs567645663
• gnomAD v2: 1-200090220-G-A
• gnomAD v3: 1-200121092-G-A
• gnomAD v4: 1-200121092-G-A
• MyVariant Identifiers: chr1:g.200090220G>A (hg19) ; chr1:g.200121092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200121092G>A , CM000663.2:g.200121092G>A	GRCh38
NC_000001.10:g.200090220G>A , CM000663.1:g.200090220G>A	GRCh37
NC_000001.9:g.198356843G>A	NCBI36
NG_050913.1:g.98491G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.1378+137G>A MANE Select	ENSP00000356331.3:n.1378+137G>A
ENST00000236914.7:c.1240+137G>A	ENSP00000236914.3:n.1240+137G>A
ENST00000367362.7:c.1378+137G>A	ENSP00000356331.3:n.1378+137G>A
ENST00000544748.5:c.1162+137G>A	ENSP00000439116.1:n.1162+137G>A
NM_001276464.1:c.1162+137G>A	NP_001263393.1:n.1162+137G>A
NM_003822.4:c.1240+137G>A	NP_003813.1:n.1240+137G>A
NM_205860.2:c.1378+137G>A	NP_995582.1:n.1378+137G>A
XM_005245062.2:c.1162+137G>A	XP_005245119.1:n.1162+137G>A
XM_011509380.1:c.1258+137G>A	XP_011507682.1:n.1258+137G>A
XM_011509381.1:c.1258+137G>A	XP_011507683.1:n.1258+137G>A
XM_011509382.1:c.1162+137G>A	XP_011507684.1:n.1162+137G>A
XM_011509383.1:c.1162+137G>A	XP_011507685.1:n.1162+137G>A
XM_011509384.1:c.1258+137G>A	XP_011507686.1:n.1258+137G>A
XM_005245062.3:c.1162+137G>A	XP_005245119.1:n.1162+137G>A
XM_011509381.3:c.1258+137G>A	XP_011507683.1:n.1258+137G>A
XM_011509384.2:c.1258+137G>A	XP_011507686.1:n.1258+137G>A
XM_017000904.1:c.1258+137G>A	XP_016856393.1:n.1258+137G>A
NM_205860.3:c.1378+137G>A MANE Select	NP_995582.1:n.1378+137G>A
NM_003822.5:c.1240+137G>A	NP_003813.1:n.1240+137G>A
NM_001276464.2:c.1162+137G>A	NP_001263393.1:n.1162+137G>A