Canonical Allele Identifier: CA528296402

Gene: NR5A2

Linked Data

• dbSNP Id: rs759132315
• gnomAD v2: 1-200007934-C-A
• gnomAD v4: 1-200038806-C-A
• MyVariant Identifiers: chr1:g.200007934C>A (hg19) ; chr1:g.200038806C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038806C>A , CM000663.2:g.200038806C>A	GRCh38
NC_000001.10:g.200007934C>A , CM000663.1:g.200007934C>A	GRCh37
NC_000001.9:g.198274557C>A	NCBI36
NG_050913.1:g.16205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-852C>A MANE Select	ENSP00000356331.3:n.65-852C>A
ENST00000236914.7:c.65-4968C>A	ENSP00000236914.3:n.65-4968C>A
ENST00000367362.7:c.65-852C>A	ENSP00000356331.3:n.65-852C>A
ENST00000447034.1:c.101+34C>A
ENST00000474307.1:c.*419-4968C>A	ENSP00000436776.1:n.*419-4968C>A
NM_003822.4:c.65-4968C>A	NP_003813.1:n.65-4968C>A
NM_205860.2:c.65-852C>A	NP_995582.1:n.65-852C>A
XM_011509380.1:c.-56-852C>A	XP_011507682.1:n.-56-852C>A
XM_011509381.1:c.-57+34C>A	XP_011507683.1:n.-57+34C>A
XM_011509382.1:c.-14-4968C>A	XP_011507684.1:n.-14-4968C>A
XM_011509381.3:c.-57+34C>A	XP_011507683.1:n.-57+34C>A
NM_205860.3:c.65-852C>A MANE Select	NP_995582.1:n.65-852C>A
NM_003822.5:c.65-4968C>A	NP_003813.1:n.65-4968C>A