Canonical Allele Identifier: CA374886994
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500443C>A , CM000671.2:g.124500443C>A GRCh38
NC_000009.11:g.127262722C>A , CM000671.1:g.127262722C>A GRCh37
NC_000009.10:g.126302543C>A NCBI36
NG_008176.1:g.11978G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.517G>T MANE Select ENSP00000362690.4:p.Val173Leu
ENST00000373587.3:c.40-171G>T ENSP00000362689.3:n.40-171G>T
ENST00000373588.8:c.517G>T ENSP00000362690.4:p.Val173Leu
ENST00000455734.1:c.517G>T ENSP00000393245.1:p.Val173Leu
ENST00000620110.4:c.517G>T ENSP00000483309.1:p.Val173Leu
NM_004959.4:c.517G>T NP_004950.2:p.Val173Leu
XM_005251871.2:c.517G>T XP_005251928.1:p.Val173Leu
XM_005251872.3:c.256G>T XP_005251929.1:p.Val86Leu
XM_011518455.1:c.517G>T XP_011516757.1:p.Val173Leu
XM_011518456.1:c.517G>T XP_011516758.1:p.Val173Leu
NM_004959.5:c.517G>T MANE Select NP_004950.2:p.Val173Leu