Canonical Allele Identifier: CA16042758

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124482964G>C , CM000671.2:g.124482964G>C	GRCh38
NC_000009.11:g.127245243G>C , CM000671.1:g.127245243G>C	GRCh37
NC_000009.10:g.126285064G>C	NCBI36
NG_008176.1:g.29457C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004959.5:c.1180C>G MANE Select	NP_004950.2:p.Gln394Glu
ENST00000373588.9:c.1180C>G MANE Select	ENSP00000362690.4:p.Gln394Glu
NM_004959.4:c.1180C>G	NP_004950.2:p.Gln394Glu
ENST00000373587.3:c.532C>G	ENSP00000362689.3:p.Gln178Glu
ENST00000373588.8:c.1180C>G	ENSP00000362690.4:p.Gln394Glu
ENST00000620110.4:c.1060C>G	ENSP00000483309.1:p.Gln354Glu
XM_005251871.2:c.1180C>G	XP_005251928.1:p.Gln394Glu
XM_005251872.3:c.919C>G	XP_005251929.1:p.Gln307Glu
XM_011518455.1:c.1180C>G	XP_011516757.1:p.Gln394Glu
XM_011518456.1:c.*36C>G	XP_011516758.1:n.*36C>G