Canonical Allele Identifier: CA590936688

Gene: NR5A1

Linked Data

• dbSNP Id: rs1262523390
• gnomAD v2: 9-127265318-G-A
• gnomAD v4: 9-124503039-G-A
• MyVariant Identifiers: chr9:g.127265318G>A (hg19) ; chr9:g.124503039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503039G>A , CM000671.2:g.124503039G>A	GRCh38
NC_000009.11:g.127265318G>A , CM000671.1:g.127265318G>A	GRCh37
NC_000009.10:g.126305139G>A	NCBI36
NG_008176.1:g.9382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+40C>T MANE Select	ENSP00000362690.4:n.244+40C>T
ENST00000373588.8:c.244+40C>T	ENSP00000362690.4:n.244+40C>T
ENST00000455734.1:c.244+40C>T	ENSP00000393245.1:n.244+40C>T
ENST00000620110.4:c.244+40C>T	ENSP00000483309.1:n.244+40C>T
NM_004959.4:c.244+40C>T	NP_004950.2:n.244+40C>T
XM_005251871.2:c.244+40C>T	XP_005251928.1:n.244+40C>T
XM_005251872.3:c.-18+255C>T	XP_005251929.1:n.-18+255C>T
XM_011518455.1:c.244+40C>T	XP_011516757.1:n.244+40C>T
XM_011518456.1:c.244+40C>T	XP_011516758.1:n.244+40C>T
NM_004959.5:c.244+40C>T MANE Select	NP_004950.2:n.244+40C>T