Canonical Allele Identifier: CA1315712

Gene: NR5A2

Linked Data

• dbSNP Id: rs774126574
• ExAC: 1:200007844 G / T
• gnomAD v2: 1-200007844-G-T
• gnomAD v3: 1-200038716-G-T
• gnomAD v4: 1-200038716-G-T
• MyVariant Identifiers: chr1:g.200007844G>T (hg19) ; chr1:g.200038716G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038716G>T , CM000663.2:g.200038716G>T	GRCh38
NC_000001.10:g.200007844G>T , CM000663.1:g.200007844G>T	GRCh37
NC_000001.9:g.198274467G>T	NCBI36
NG_050913.1:g.16115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-942G>T MANE Select	ENSP00000356331.3:n.65-942G>T
ENST00000236914.7:c.65-5058G>T	ENSP00000236914.3:n.65-5058G>T
ENST00000367362.7:c.65-942G>T	ENSP00000356331.3:n.65-942G>T
ENST00000447034.1:c.45G>T
ENST00000474307.1:c.*419-5058G>T	ENSP00000436776.1:n.*419-5058G>T
NM_003822.4:c.65-5058G>T	NP_003813.1:n.65-5058G>T
NM_205860.2:c.65-942G>T	NP_995582.1:n.65-942G>T
XM_011509380.1:c.-56-942G>T	XP_011507682.1:n.-56-942G>T
XM_011509381.1:c.-113G>T	XP_011507683.1:n.-113G>T
XM_011509382.1:c.-14-5058G>T	XP_011507684.1:n.-14-5058G>T
XM_011509381.3:c.-113G>T	XP_011507683.1:n.-113G>T
NM_205860.3:c.65-942G>T MANE Select	NP_995582.1:n.65-942G>T
NM_003822.5:c.65-5058G>T	NP_003813.1:n.65-5058G>T