Canonical Allele Identifier: CA5235417

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500256G>A , CM000671.2:g.124500256G>A	GRCh38
NC_000009.11:g.127262535G>A , CM000671.1:g.127262535G>A	GRCh37
NC_000009.10:g.126302356G>A	NCBI36
NG_008176.1:g.12165C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004959.5:c.704C>T MANE Select	NP_004950.2:p.Pro235Leu
ENST00000373588.9:c.704C>T MANE Select	ENSP00000362690.4:p.Pro235Leu
NM_004959.4:c.704C>T	NP_004950.2:p.Pro235Leu
ENST00000373587.3:c.56C>T	ENSP00000362689.3:p.Pro19Leu
ENST00000373588.8:c.704C>T	ENSP00000362690.4:p.Pro235Leu
ENST00000620110.4:c.704C>T	ENSP00000483309.1:p.Pro235Leu
XM_005251871.2:c.704C>T	XP_005251928.1:p.Pro235Leu
XM_005251872.3:c.443C>T	XP_005251929.1:p.Pro148Leu
XM_011518455.1:c.704C>T	XP_011516757.1:p.Pro235Leu
XM_011518456.1:c.704C>T	XP_011516758.1:p.Pro235Leu