Canonical Allele Identifier: CA1878469616
Community Standard Title: NM_004959.5(NR5A1):c.275G= (p.Arg92=)
Gene: NR5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500685C= , CM000671.2:g.124500685C= GRCh38
NC_000009.11:g.127262964C= , CM000671.1:g.127262964C= GRCh37
NC_000009.10:g.126302785C= NCBI36
NG_008176.1:g.11736G=

Transcript Alleles

HGVS Amino-acid Change
NM_004959.5:c.275G= MANE Select NP_004950.2:p.Arg92=
ENST00000373588.9:c.275G= MANE Select ENSP00000362690.4:p.Arg92=
NM_004959.4:c.275G= NP_004950.2:p.Arg92=
ENST00000373587.3:c.39+263G= ENSP00000362689.3:n.39+263G=
ENST00000373588.8:c.275G= ENSP00000362690.4:p.Arg92=
ENST00000455734.1:c.275G= ENSP00000393245.1:p.Arg92=
ENST00000620110.4:c.275G= ENSP00000483309.1:p.Arg92=
XM_005251871.2:c.275G= XP_005251928.1:p.Arg92=
XM_005251872.3:c.14G= XP_005251929.1:p.Arg5=
XM_011518455.1:c.275G= XP_011516757.1:p.Arg92=
XM_011518456.1:c.275G= XP_011516758.1:p.Arg92=