Canonical Allele Identifier: CA5235496

Gene: NR5A1

Linked Data

• dbSNP Id: rs552050549
• ExAC: 9:127262867 G / C
• gnomAD v2: 9-127262867-G-C
• gnomAD v3: 9-124500588-G-C
• gnomAD v4: 9-124500588-G-C
• MyVariant Identifiers: chr9:g.127262867G>C (hg19) ; chr9:g.124500588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500588G>C , CM000671.2:g.124500588G>C	GRCh38
NC_000009.11:g.127262867G>C , CM000671.1:g.127262867G>C	GRCh37
NC_000009.10:g.126302688G>C	NCBI36
NG_008176.1:g.11833C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.372C>G MANE Select	ENSP00000362690.4:p.Pro124=
ENST00000373587.3:c.40-316C>G	ENSP00000362689.3:n.40-316C>G
ENST00000373588.8:c.372C>G	ENSP00000362690.4:p.Pro124=
ENST00000455734.1:c.372C>G	ENSP00000393245.1:p.Pro124=
ENST00000620110.4:c.372C>G	ENSP00000483309.1:p.Pro124=
NM_004959.4:c.372C>G	NP_004950.2:p.Pro124=
XM_005251871.2:c.372C>G	XP_005251928.1:p.Pro124=
XM_005251872.3:c.111C>G	XP_005251929.1:p.Pro37=
XM_011518455.1:c.372C>G	XP_011516757.1:p.Pro124=
XM_011518456.1:c.372C>G	XP_011516758.1:p.Pro124=
NM_004959.5:c.372C>G MANE Select	NP_004950.2:p.Pro124=