Canonical Allele Identifier: CA199729024

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 1009399
• ClinVar RCV Id: RCV001306883
• dbSNP Id: rs944587497
• gnomAD v2: 9-127262811-C-G
• gnomAD v4: 9-124500532-C-G
• MyVariant Identifiers: chr9:g.127262811C>G (hg19) ; chr9:g.124500532C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500532C>G , CM000671.2:g.124500532C>G	GRCh38
NC_000009.11:g.127262811C>G , CM000671.1:g.127262811C>G	GRCh37
NC_000009.10:g.126302632C>G	NCBI36
NG_008176.1:g.11889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.428G>C MANE Select	ENSP00000362690.4:p.Ser143Thr
ENST00000373587.3:c.40-260G>C	ENSP00000362689.3:n.40-260G>C
ENST00000373588.8:c.428G>C	ENSP00000362690.4:p.Ser143Thr
ENST00000455734.1:c.428G>C	ENSP00000393245.1:p.Ser143Thr
ENST00000620110.4:c.428G>C	ENSP00000483309.1:p.Ser143Thr
NM_004959.4:c.428G>C	NP_004950.2:p.Ser143Thr
XM_005251871.2:c.428G>C	XP_005251928.1:p.Ser143Thr
XM_005251872.3:c.167G>C	XP_005251929.1:p.Ser56Thr
XM_011518455.1:c.428G>C	XP_011516757.1:p.Ser143Thr
XM_011518456.1:c.428G>C	XP_011516758.1:p.Ser143Thr
NM_004959.5:c.428G>C MANE Select	NP_004950.2:p.Ser143Thr