Canonical Allele Identifier: CA1878472617
Gene: NR5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124502989T= , CM000671.2:g.124502989T= GRCh38
NC_000009.11:g.127265268T= , CM000671.1:g.127265268T= GRCh37
NC_000009.10:g.126305089T= NCBI36
NG_008176.1:g.9432A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.244+90A= MANE Select ENSP00000362690.4:n.244+90A=
ENST00000373588.8:c.244+90A= ENSP00000362690.4:n.244+90A=
ENST00000455734.1:c.244+90A= ENSP00000393245.1:n.244+90A=
ENST00000620110.4:c.244+90A= ENSP00000483309.1:n.244+90A=
NM_004959.4:c.244+90A= NP_004950.2:n.244+90A=
XM_005251871.2:c.244+90A= XP_005251928.1:n.244+90A=
XM_005251872.3:c.-18+305A= XP_005251929.1:n.-18+305A=
XM_011518455.1:c.244+90A= XP_011516757.1:n.244+90A=
XM_011518456.1:c.244+90A= XP_011516758.1:n.244+90A=
NM_004959.5:c.244+90A= MANE Select NP_004950.2:n.244+90A=