Canonical Allele Identifier: CA35913388

Gene: NR5A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038313C>T , CM000663.2:g.200038313C>T	GRCh38
NC_000001.10:g.200007441C>T , CM000663.1:g.200007441C>T	GRCh37
NC_000001.9:g.198274064C>T	NCBI36
NG_050913.1:g.15712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1345C>T MANE Select	ENSP00000356331.3:n.65-1345C>T
ENST00000236914.7:c.65-5461C>T	ENSP00000236914.3:n.65-5461C>T
ENST00000367362.7:c.65-1345C>T	ENSP00000356331.3:n.65-1345C>T
ENST00000447034.1:c.30-388C>T
ENST00000474307.1:c.*419-5461C>T	ENSP00000436776.1:n.*419-5461C>T
NM_003822.4:c.65-5461C>T	NP_003813.1:n.65-5461C>T
NM_205860.2:c.65-1345C>T	NP_995582.1:n.65-1345C>T
XM_011509380.1:c.-56-1345C>T	XP_011507682.1:n.-56-1345C>T
XM_011509382.1:c.-14-5461C>T	XP_011507684.1:n.-14-5461C>T
XM_011509381.3:c.-516C>T	XP_011507683.1:n.-516C>T
NM_205860.3:c.65-1345C>T MANE Select	NP_995582.1:n.65-1345C>T
NM_003822.5:c.65-5461C>T	NP_003813.1:n.65-5461C>T