Canonical Allele Identifier: CA1011142509

Gene: NR5A2

Linked Data

• dbSNP Id: rs1661875392
• gnomAD v3: 1-200038282-A-G
• gnomAD v4: 1-200038282-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038282A>G , CM000663.2:g.200038282A>G	GRCh38
NC_000001.10:g.200007410A>G , CM000663.1:g.200007410A>G	GRCh37
NC_000001.9:g.198274033A>G	NCBI36
NG_050913.1:g.15681A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1376A>G MANE Select	ENSP00000356331.3:n.65-1376A>G
ENST00000236914.7:c.65-5492A>G	ENSP00000236914.3:n.65-5492A>G
ENST00000367362.7:c.65-1376A>G	ENSP00000356331.3:n.65-1376A>G
ENST00000447034.1:c.30-419A>G
ENST00000474307.1:c.*419-5492A>G	ENSP00000436776.1:n.*419-5492A>G
NM_003822.4:c.65-5492A>G	NP_003813.1:n.65-5492A>G
NM_205860.2:c.65-1376A>G	NP_995582.1:n.65-1376A>G
XM_011509380.1:c.-56-1376A>G	XP_011507682.1:n.-56-1376A>G
XM_011509382.1:c.-14-5492A>G	XP_011507684.1:n.-14-5492A>G
XM_011509381.3:c.-547A>G	XP_011507683.1:n.-547A>G
NM_205860.3:c.65-1376A>G MANE Select	NP_995582.1:n.65-1376A>G
NM_003822.5:c.65-5492A>G	NP_003813.1:n.65-5492A>G