Canonical Allele Identifier: CA2579449073

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500533-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500536del , CM000671.2:g.124500536del	GRCh38
NC_000009.11:g.127262815del , CM000671.1:g.127262815del	GRCh37
NC_000009.10:g.126302636del	NCBI36
NG_008176.1:g.11887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.426del MANE Select	ENSP00000362690.4:p.Ser143AlafsTer?
ENST00000373587.3:c.40-262del	ENSP00000362689.3:n.40-262del
ENST00000373588.8:c.426del	ENSP00000362690.4:p.Ser143AlafsTer?
ENST00000455734.1:c.426del	ENSP00000393245.1:p.Ser143AlafsTer?
ENST00000620110.4:c.426del	ENSP00000483309.1:p.Ser143AlafsTer?
NM_004959.4:c.426del	NP_004950.2:p.Ser143AlafsTer?
XM_005251871.2:c.426del	XP_005251928.1:p.Ser143AlafsTer?
XM_005251872.3:c.165del	XP_005251929.1:p.Ser56AlafsTer?
XM_011518455.1:c.426del	XP_011516757.1:p.Ser143AlafsTer?
XM_011518456.1:c.426del	XP_011516758.1:p.Ser143AlafsTer?
NM_004959.5:c.426del MANE Select	NP_004950.2:p.Ser143AlafsTer?