Canonical Allele Identifier: CA374882574

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124493121-T-C
• MyVariant Identifiers: chr9:g.127255400T>C (hg19) ; chr9:g.124493121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493121T>C , CM000671.2:g.124493121T>C	GRCh38
NC_000009.11:g.127255400T>C , CM000671.1:g.127255400T>C	GRCh37
NC_000009.10:g.126295221T>C	NCBI36
NG_008176.1:g.19300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.899A>G MANE Select	ENSP00000362690.4:p.Asn300Ser
ENST00000373587.3:c.251A>G	ENSP00000362689.3:p.Asn84Ser
ENST00000373588.8:c.899A>G	ENSP00000362690.4:p.Asn300Ser
ENST00000620110.4:c.871-1893A>G	ENSP00000483309.1:n.871-1893A>G
NM_004959.4:c.899A>G	NP_004950.2:p.Asn300Ser
XM_005251871.2:c.899A>G	XP_005251928.1:p.Asn300Ser
XM_005251872.3:c.638A>G	XP_005251929.1:p.Asn213Ser
XM_011518455.1:c.899A>G	XP_011516757.1:p.Asn300Ser
XM_011518456.1:c.870+6969A>G	XP_011516758.1:n.870+6969A>G
NM_004959.5:c.899A>G MANE Select	NP_004950.2:p.Asn300Ser