Canonical Allele Identifier: CA2691629851

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124503044-G-GGGGGGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503045_124503051dup , CM000671.2:g.124503045_124503051dup	GRCh38
NC_000009.11:g.127265324_127265330dup , CM000671.1:g.127265324_127265330dup	GRCh37
NC_000009.10:g.126305145_126305151dup	NCBI36
NG_008176.1:g.9370_9376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+28_244+34dup MANE Select	ENSP00000362690.4:n.244+28_244+34dup
ENST00000373588.8:c.244+28_244+34dup	ENSP00000362690.4:n.244+28_244+34dup
ENST00000455734.1:c.244+28_244+34dup	ENSP00000393245.1:n.244+28_244+34dup
ENST00000620110.4:c.244+28_244+34dup	ENSP00000483309.1:n.244+28_244+34dup
NM_004959.4:c.244+28_244+34dup	NP_004950.2:n.244+28_244+34dup
XM_005251871.2:c.244+28_244+34dup	XP_005251928.1:n.244+28_244+34dup
XM_005251872.3:c.-18+243_-18+249dup	XP_005251929.1:n.-18+243_-18+249dup
XM_011518455.1:c.244+28_244+34dup	XP_011516757.1:n.244+28_244+34dup
XM_011518456.1:c.244+28_244+34dup	XP_011516758.1:n.244+28_244+34dup
NM_004959.5:c.244+28_244+34dup MANE Select	NP_004950.2:n.244+28_244+34dup