Canonical Allele Identifier: CA5235460

Gene: NR5A1

Linked Data

• dbSNP Id: rs376480904
• ExAC: 9:127262776 C / A
• gnomAD v2: 9-127262776-C-A
• gnomAD v4: 9-124500497-C-A
• COSMIC: COSM5694368
• MyVariant Identifiers: chr9:g.127262776C>A (hg19) ; chr9:g.124500497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500497C>A , CM000671.2:g.124500497C>A	GRCh38
NC_000009.11:g.127262776C>A , CM000671.1:g.127262776C>A	GRCh37
NC_000009.10:g.126302597C>A	NCBI36
NG_008176.1:g.11924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.463G>T MANE Select	ENSP00000362690.4:p.Gly155Cys
ENST00000373587.3:c.40-225G>T	ENSP00000362689.3:n.40-225G>T
ENST00000373588.8:c.463G>T	ENSP00000362690.4:p.Gly155Cys
ENST00000455734.1:c.463G>T	ENSP00000393245.1:p.Gly155Cys
ENST00000620110.4:c.463G>T	ENSP00000483309.1:p.Gly155Cys
NM_004959.4:c.463G>T	NP_004950.2:p.Gly155Cys
XM_005251871.2:c.463G>T	XP_005251928.1:p.Gly155Cys
XM_005251872.3:c.202G>T	XP_005251929.1:p.Gly68Cys
XM_011518455.1:c.463G>T	XP_011516757.1:p.Gly155Cys
XM_011518456.1:c.463G>T	XP_011516758.1:p.Gly155Cys
NM_004959.5:c.463G>T MANE Select	NP_004950.2:p.Gly155Cys