Canonical Allele Identifier: CA1878472766
Gene: NR5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503069C= , CM000671.2:g.124503069C= GRCh38
NC_000009.11:g.127265348C= , CM000671.1:g.127265348C= GRCh37
NC_000009.10:g.126305169C= NCBI36
NG_008176.1:g.9352G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.244+10G= MANE Select ENSP00000362690.4:n.244+10G=
ENST00000373588.8:c.244+10G= ENSP00000362690.4:n.244+10G=
ENST00000455734.1:c.244+10G= ENSP00000393245.1:n.244+10G=
ENST00000620110.4:c.244+10G= ENSP00000483309.1:n.244+10G=
NM_004959.4:c.244+10G= NP_004950.2:n.244+10G=
XM_005251871.2:c.244+10G= XP_005251928.1:n.244+10G=
XM_005251872.3:c.-18+225G= XP_005251929.1:n.-18+225G=
XM_011518455.1:c.244+10G= XP_011516757.1:n.244+10G=
XM_011518456.1:c.244+10G= XP_011516758.1:n.244+10G=
NM_004959.5:c.244+10G= MANE Select NP_004950.2:n.244+10G=