Canonical Allele Identifier: CA1011142494

Gene: NR5A2

Linked Data

• dbSNP Id: rs987503754
• gnomAD v3: 1-200038207-G-T
• gnomAD v4: 1-200038207-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038207G>T , CM000663.2:g.200038207G>T	GRCh38
NC_000001.10:g.200007335G>T , CM000663.1:g.200007335G>T	GRCh37
NC_000001.9:g.198273958G>T	NCBI36
NG_050913.1:g.15606G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1451G>T MANE Select	ENSP00000356331.3:n.65-1451G>T
ENST00000236914.7:c.65-5567G>T	ENSP00000236914.3:n.65-5567G>T
ENST00000367362.7:c.65-1451G>T	ENSP00000356331.3:n.65-1451G>T
ENST00000447034.1:c.30-494G>T
ENST00000474307.1:c.*419-5567G>T	ENSP00000436776.1:n.*419-5567G>T
NM_003822.4:c.65-5567G>T	NP_003813.1:n.65-5567G>T
NM_205860.2:c.65-1451G>T	NP_995582.1:n.65-1451G>T
XM_011509380.1:c.-56-1451G>T	XP_011507682.1:n.-56-1451G>T
XM_011509382.1:c.-14-5567G>T	XP_011507684.1:n.-14-5567G>T
XM_011509381.3:c.-622G>T	XP_011507683.1:n.-622G>T
NM_205860.3:c.65-1451G>T MANE Select	NP_995582.1:n.65-1451G>T
NM_003822.5:c.65-5567G>T	NP_003813.1:n.65-5567G>T