Canonical Allele Identifier: CA374886708
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500380T>G , CM000671.2:g.124500380T>G GRCh38
NC_000009.11:g.127262659T>G , CM000671.1:g.127262659T>G GRCh37
NC_000009.10:g.126302480T>G NCBI36
NG_008176.1:g.12041A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.580A>C MANE Select ENSP00000362690.4:p.Lys194Gln
ENST00000373587.3:c.40-108A>C ENSP00000362689.3:n.40-108A>C
ENST00000373588.8:c.580A>C ENSP00000362690.4:p.Lys194Gln
ENST00000620110.4:c.580A>C ENSP00000483309.1:p.Lys194Gln
NM_004959.4:c.580A>C NP_004950.2:p.Lys194Gln
XM_005251871.2:c.580A>C XP_005251928.1:p.Lys194Gln
XM_005251872.3:c.319A>C XP_005251929.1:p.Lys107Gln
XM_011518455.1:c.580A>C XP_011516757.1:p.Lys194Gln
XM_011518456.1:c.580A>C XP_011516758.1:p.Lys194Gln
NM_004959.5:c.580A>C MANE Select NP_004950.2:p.Lys194Gln