Canonical Allele Identifier: CA2740095598

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 2927213
• ClinVar RCV Id: RCV003781403

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500522_124500523delinsTG , CM000671.2:g.124500522_124500523delinsTG	GRCh38
NC_000009.11:g.127262801_127262802delinsTG , CM000671.1:g.127262801_127262802delinsTG	GRCh37
NC_000009.10:g.126302622_126302623delinsTG	NCBI36
NG_008176.1:g.11898_11899delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.437_438delinsCA MANE Select	ENSP00000362690.4:p.Gly146Ala
ENST00000373587.3:c.40-251_40-250delinsCA	ENSP00000362689.3:n.40-251_40-250delinsCA
ENST00000373588.8:c.437_438delinsCA	ENSP00000362690.4:p.Gly146Ala
ENST00000455734.1:c.437_438delinsCA	ENSP00000393245.1:p.Gly146Ala
ENST00000620110.4:c.437_438delinsCA	ENSP00000483309.1:p.Gly146Ala
NM_004959.4:c.437_438delinsCA	NP_004950.2:p.Gly146Ala
XM_005251871.2:c.437_438delinsCA	XP_005251928.1:p.Gly146Ala
XM_005251872.3:c.176_177delinsCA	XP_005251929.1:p.Gly59Ala
XM_011518455.1:c.437_438delinsCA	XP_011516757.1:p.Gly146Ala
XM_011518456.1:c.437_438delinsCA	XP_011516758.1:p.Gly146Ala
NM_004959.5:c.437_438delinsCA MANE Select	NP_004950.2:p.Gly146Ala