Canonical Allele Identifier: CA374886904

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127262701G>C (hg19) ; chr9:g.124500422G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500422G>C , CM000671.2:g.124500422G>C	GRCh38
NC_000009.11:g.127262701G>C , CM000671.1:g.127262701G>C	GRCh37
NC_000009.10:g.126302522G>C	NCBI36
NG_008176.1:g.11999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.538C>G MANE Select	ENSP00000362690.4:p.Leu180Val
ENST00000373587.3:c.40-150C>G	ENSP00000362689.3:n.40-150C>G
ENST00000373588.8:c.538C>G	ENSP00000362690.4:p.Leu180Val
ENST00000620110.4:c.538C>G	ENSP00000483309.1:p.Leu180Val
NM_004959.4:c.538C>G	NP_004950.2:p.Leu180Val
XM_005251871.2:c.538C>G	XP_005251928.1:p.Leu180Val
XM_005251872.3:c.277C>G	XP_005251929.1:p.Leu93Val
XM_011518455.1:c.538C>G	XP_011516757.1:p.Leu180Val
XM_011518456.1:c.538C>G	XP_011516758.1:p.Leu180Val
NM_004959.5:c.538C>G MANE Select	NP_004950.2:p.Leu180Val