Canonical Allele Identifier: CA374889279
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500949T>C , CM000671.2:g.124500949T>C GRCh38
NC_000009.11:g.127263228T>C , CM000671.1:g.127263228T>C GRCh37
NC_000009.10:g.126303049T>C NCBI36
NG_008176.1:g.11472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.245-234A>G MANE Select ENSP00000362690.4:n.245-234A>G
ENST00000373587.3:c.38A>G ENSP00000362689.3:p.Glu13Gly
ENST00000373588.8:c.245-234A>G ENSP00000362690.4:n.245-234A>G
ENST00000455734.1:c.245-234A>G ENSP00000393245.1:n.245-234A>G
ENST00000620110.4:c.245-234A>G ENSP00000483309.1:n.245-234A>G
NM_004959.4:c.245-234A>G NP_004950.2:n.245-234A>G
XM_005251871.2:c.245-234A>G XP_005251928.1:n.245-234A>G
XM_005251872.3:c.-17-234A>G XP_005251929.1:n.-17-234A>G
XM_011518455.1:c.245-234A>G XP_011516757.1:n.245-234A>G
XM_011518456.1:c.245-234A>G XP_011516758.1:n.245-234A>G
NM_004959.5:c.245-234A>G MANE Select NP_004950.2:n.245-234A>G