Canonical Allele Identifier: CA1878472675
Gene: NR5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503031C= , CM000671.2:g.124503031C= GRCh38
NC_000009.11:g.127265310C= , CM000671.1:g.127265310C= GRCh37
NC_000009.10:g.126305131C= NCBI36
NG_008176.1:g.9390G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.244+48G= MANE Select ENSP00000362690.4:n.244+48G=
ENST00000373588.8:c.244+48G= ENSP00000362690.4:n.244+48G=
ENST00000455734.1:c.244+48G= ENSP00000393245.1:n.244+48G=
ENST00000620110.4:c.244+48G= ENSP00000483309.1:n.244+48G=
NM_004959.4:c.244+48G= NP_004950.2:n.244+48G=
XM_005251871.2:c.244+48G= XP_005251928.1:n.244+48G=
XM_005251872.3:c.-18+263G= XP_005251929.1:n.-18+263G=
XM_011518455.1:c.244+48G= XP_011516757.1:n.244+48G=
XM_011518456.1:c.244+48G= XP_011516758.1:n.244+48G=
NM_004959.5:c.244+48G= MANE Select NP_004950.2:n.244+48G=