Canonical Allele Identifier: CA374890244
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503121A>G , CM000671.2:g.124503121A>G GRCh38
NC_000009.11:g.127265400A>G , CM000671.1:g.127265400A>G GRCh37
NC_000009.10:g.126305221A>G NCBI36
NG_008176.1:g.9300T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.202T>C MANE Select ENSP00000362690.4:p.Cys68Arg
ENST00000373588.8:c.202T>C ENSP00000362690.4:p.Cys68Arg
ENST00000455734.1:c.202T>C ENSP00000393245.1:p.Cys68Arg
ENST00000620110.4:c.202T>C ENSP00000483309.1:p.Cys68Arg
NM_004959.4:c.202T>C NP_004950.2:p.Cys68Arg
XM_005251871.2:c.202T>C XP_005251928.1:p.Cys68Arg
XM_005251872.3:c.-18+173T>C XP_005251929.1:n.-18+173T>C
XM_011518455.1:c.202T>C XP_011516757.1:p.Cys68Arg
XM_011518456.1:c.202T>C XP_011516758.1:p.Cys68Arg
NM_004959.5:c.202T>C MANE Select NP_004950.2:p.Cys68Arg