Canonical Allele Identifier: CA2691610762

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124493015-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493015C>G , CM000671.2:g.124493015C>G	GRCh38
NC_000009.11:g.127255294C>G , CM000671.1:g.127255294C>G	GRCh37
NC_000009.10:g.126295115C>G	NCBI36
NG_008176.1:g.19406G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.990+15G>C MANE Select	ENSP00000362690.4:n.990+15G>C
ENST00000373587.3:c.342+15G>C	ENSP00000362689.3:n.342+15G>C
ENST00000373588.8:c.990+15G>C	ENSP00000362690.4:n.990+15G>C
ENST00000620110.4:c.871-1787G>C	ENSP00000483309.1:n.871-1787G>C
NM_004959.4:c.990+15G>C	NP_004950.2:n.990+15G>C
XM_005251871.2:c.990+15G>C	XP_005251928.1:n.990+15G>C
XM_005251872.3:c.729+15G>C	XP_005251929.1:n.729+15G>C
XM_011518455.1:c.990+15G>C	XP_011516757.1:n.990+15G>C
XM_011518456.1:c.870+7075G>C	XP_011516758.1:n.870+7075G>C
NM_004959.5:c.990+15G>C MANE Select	NP_004950.2:n.990+15G>C