Canonical Allele Identifier: CA374882531
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124493115C>A , CM000671.2:g.124493115C>A GRCh38
NC_000009.11:g.127255394C>A , CM000671.1:g.127255394C>A GRCh37
NC_000009.10:g.126295215C>A NCBI36
NG_008176.1:g.19306G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.905G>T MANE Select ENSP00000362690.4:p.Trp302Leu
ENST00000373587.3:c.257G>T ENSP00000362689.3:p.Trp86Leu
ENST00000373588.8:c.905G>T ENSP00000362690.4:p.Trp302Leu
ENST00000620110.4:c.871-1887G>T ENSP00000483309.1:n.871-1887G>T
NM_004959.4:c.905G>T NP_004950.2:p.Trp302Leu
XM_005251871.2:c.905G>T XP_005251928.1:p.Trp302Leu
XM_005251872.3:c.644G>T XP_005251929.1:p.Trp215Leu
XM_011518455.1:c.905G>T XP_011516757.1:p.Trp302Leu
XM_011518456.1:c.870+6975G>T XP_011516758.1:n.870+6975G>T
NM_004959.5:c.905G>T MANE Select NP_004950.2:p.Trp302Leu