Canonical Allele Identifier: CA374889370

Gene: NR5A1

Linked Data

• dbSNP Id: rs1223391504
• gnomAD v2: 9-127263241-T-C
• gnomAD v4: 9-124500962-T-C
• MyVariant Identifiers: chr9:g.127263241T>C (hg19) ; chr9:g.124500962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500962T>C , CM000671.2:g.124500962T>C	GRCh38
NC_000009.11:g.127263241T>C , CM000671.1:g.127263241T>C	GRCh37
NC_000009.10:g.126303062T>C	NCBI36
NG_008176.1:g.11459A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-247A>G MANE Select	ENSP00000362690.4:n.245-247A>G
ENST00000373587.3:c.25A>G	ENSP00000362689.3:p.Asn9Asp
ENST00000373588.8:c.245-247A>G	ENSP00000362690.4:n.245-247A>G
ENST00000455734.1:c.245-247A>G	ENSP00000393245.1:n.245-247A>G
ENST00000620110.4:c.245-247A>G	ENSP00000483309.1:n.245-247A>G
NM_004959.4:c.245-247A>G	NP_004950.2:n.245-247A>G
XM_005251871.2:c.245-247A>G	XP_005251928.1:n.245-247A>G
XM_005251872.3:c.-17-247A>G	XP_005251929.1:n.-17-247A>G
XM_011518455.1:c.245-247A>G	XP_011516757.1:n.245-247A>G
XM_011518456.1:c.245-247A>G	XP_011516758.1:n.245-247A>G
NM_004959.5:c.245-247A>G MANE Select	NP_004950.2:n.245-247A>G