Canonical Allele Identifier: CA1315699

Gene: NR5A2

Linked Data

• dbSNP Id: rs755604969
• ExAC: 1:200007795 C / A
• gnomAD v2: 1-200007795-C-A
• gnomAD v4: 1-200038667-C-A
• MyVariant Identifiers: chr1:g.200007795C>A (hg19) ; chr1:g.200038667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038667C>A , CM000663.2:g.200038667C>A	GRCh38
NC_000001.10:g.200007795C>A , CM000663.1:g.200007795C>A	GRCh37
NC_000001.9:g.198274418C>A	NCBI36
NG_050913.1:g.16066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-991C>A MANE Select	ENSP00000356331.3:n.65-991C>A
ENST00000236914.7:c.65-5107C>A	ENSP00000236914.3:n.65-5107C>A
ENST00000367362.7:c.65-991C>A	ENSP00000356331.3:n.65-991C>A
ENST00000447034.1:c.30-34C>A
ENST00000474307.1:c.*419-5107C>A	ENSP00000436776.1:n.*419-5107C>A
NM_003822.4:c.65-5107C>A	NP_003813.1:n.65-5107C>A
NM_205860.2:c.65-991C>A	NP_995582.1:n.65-991C>A
XM_011509380.1:c.-56-991C>A	XP_011507682.1:n.-56-991C>A
XM_011509382.1:c.-14-5107C>A	XP_011507684.1:n.-14-5107C>A
XM_011509381.3:c.-162C>A	XP_011507683.1:n.-162C>A
NM_205860.3:c.65-991C>A MANE Select	NP_995582.1:n.65-991C>A
NM_003822.5:c.65-5107C>A	NP_003813.1:n.65-5107C>A