Canonical Allele Identifier: CA1129033531

Gene: NR5A1

Linked Data

• dbSNP Id: rs1832500133
• gnomAD v3: 9-124503490-TCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGC-T
• gnomAD v4: 9-124503490-TCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503498_124503540del , CM000671.2:g.124503498_124503540del	GRCh38
NC_000009.11:g.127265777_127265819del , CM000671.1:g.127265777_127265819del	GRCh37
NC_000009.10:g.126305598_126305640del	NCBI36
NG_008176.1:g.8888_8930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.-15-123_-15-81del MANE Select	ENSP00000362690.4:n.-15-123_-15-81del
ENST00000373588.8:c.-15-123_-15-81del	ENSP00000362690.4:n.-15-123_-15-81del
ENST00000455734.1:c.-15-123_-15-81del	ENSP00000393245.1:n.-15-123_-15-81del
ENST00000620110.4:c.-15-123_-15-81del	ENSP00000483309.1:n.-15-123_-15-81del
NM_004959.4:c.-15-123_-15-81del	NP_004950.2:n.-15-123_-15-81del
XM_005251871.2:c.-15-123_-15-81del	XP_005251928.1:n.-15-123_-15-81del
XM_005251872.3:c.-134-123_-134-81del	XP_005251929.1:n.-134-123_-134-81del
XM_011518455.1:c.-15-123_-15-81del	XP_011516757.1:n.-15-123_-15-81del
XM_011518456.1:c.-15-123_-15-81del	XP_011516758.1:n.-15-123_-15-81del
NM_004959.5:c.-15-123_-15-81del MANE Select	NP_004950.2:n.-15-123_-15-81del