Canonical Allele Identifier: CA528296388

Gene: NR5A2

Linked Data

• dbSNP Id: rs1257217575
• gnomAD v2: 1-200007832-G-C
• gnomAD v3: 1-200038704-G-C
• gnomAD v4: 1-200038704-G-C
• MyVariant Identifiers: chr1:g.200007832G>C (hg19) ; chr1:g.200038704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038704G>C , CM000663.2:g.200038704G>C	GRCh38
NC_000001.10:g.200007832G>C , CM000663.1:g.200007832G>C	GRCh37
NC_000001.9:g.198274455G>C	NCBI36
NG_050913.1:g.16103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-954G>C MANE Select	ENSP00000356331.3:n.65-954G>C
ENST00000236914.7:c.65-5070G>C	ENSP00000236914.3:n.65-5070G>C
ENST00000367362.7:c.65-954G>C	ENSP00000356331.3:n.65-954G>C
ENST00000447034.1:c.33G>C
ENST00000474307.1:c.*419-5070G>C	ENSP00000436776.1:n.*419-5070G>C
NM_003822.4:c.65-5070G>C	NP_003813.1:n.65-5070G>C
NM_205860.2:c.65-954G>C	NP_995582.1:n.65-954G>C
XM_011509380.1:c.-56-954G>C	XP_011507682.1:n.-56-954G>C
XM_011509382.1:c.-14-5070G>C	XP_011507684.1:n.-14-5070G>C
XM_011509381.3:c.-125G>C	XP_011507683.1:n.-125G>C
NM_205860.3:c.65-954G>C MANE Select	NP_995582.1:n.65-954G>C
NM_003822.5:c.65-5070G>C	NP_003813.1:n.65-5070G>C