Canonical Allele Identifier: CA5235565

Gene: NR5A1

Linked Data

• dbSNP Id: rs774313239
• ExAC: 9:127265524 GC / G
• gnomAD v2: 9-127265524-GC-G
• MyVariant Identifiers: chr9:g.127265525del (hg19) ; chr9:g.124503246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503249del , CM000671.2:g.124503249del	GRCh38
NC_000009.11:g.127265528del , CM000671.1:g.127265528del	GRCh37
NC_000009.10:g.126305349del	NCBI36
NG_008176.1:g.9175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.103-26del MANE Select	ENSP00000362690.4:n.103-26del
ENST00000373588.8:c.103-26del	ENSP00000362690.4:n.103-26del
ENST00000455734.1:c.103-26del	ENSP00000393245.1:n.103-26del
ENST00000620110.4:c.103-26del	ENSP00000483309.1:n.103-26del
NM_004959.4:c.103-26del	NP_004950.2:n.103-26del
XM_005251871.2:c.103-26del	XP_005251928.1:n.103-26del
XM_005251872.3:c.-18+48del	XP_005251929.1:n.-18+48del
XM_011518455.1:c.103-26del	XP_011516757.1:n.103-26del
XM_011518456.1:c.103-26del	XP_011516758.1:n.103-26del
NM_004959.5:c.103-26del MANE Select	NP_004950.2:n.103-26del