Canonical Allele Identifier: CA729976690

Gene: NR5A2

Linked Data

• dbSNP Id: rs1344862738
• gnomAD v3: 1-200038142-G-C
• gnomAD v4: 1-200038142-G-C
• MyVariant Identifiers: chr1:g.200007270G>C (hg19) ; chr1:g.200038142G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038142G>C , CM000663.2:g.200038142G>C	GRCh38
NC_000001.10:g.200007270G>C , CM000663.1:g.200007270G>C	GRCh37
NC_000001.9:g.198273893G>C	NCBI36
NG_050913.1:g.15541G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1516G>C MANE Select	ENSP00000356331.3:n.65-1516G>C
ENST00000236914.7:c.65-5632G>C	ENSP00000236914.3:n.65-5632G>C
ENST00000367362.7:c.65-1516G>C	ENSP00000356331.3:n.65-1516G>C
ENST00000447034.1:c.30-559G>C
ENST00000474307.1:c.*419-5632G>C	ENSP00000436776.1:n.*419-5632G>C
NM_003822.4:c.65-5632G>C	NP_003813.1:n.65-5632G>C
NM_205860.2:c.65-1516G>C	NP_995582.1:n.65-1516G>C
XM_011509380.1:c.-56-1516G>C	XP_011507682.1:n.-56-1516G>C
XM_011509382.1:c.-14-5632G>C	XP_011507684.1:n.-14-5632G>C
XM_011509381.3:c.-687G>C	XP_011507683.1:n.-687G>C
NM_205860.3:c.65-1516G>C MANE Select	NP_995582.1:n.65-1516G>C
NM_003822.5:c.65-5632G>C	NP_003813.1:n.65-5632G>C