Canonical Allele Identifier: CA374890594
Gene: NR5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.127265490T>C (hg19) chr9:g.124503211T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503211T>C , CM000671.2:g.124503211T>C GRCh38
NC_000009.11:g.127265490T>C , CM000671.1:g.127265490T>C GRCh37
NC_000009.10:g.126305311T>C NCBI36
NG_008176.1:g.9210A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.112A>G MANE Select ENSP00000362690.4:p.Lys38Glu
ENST00000373588.8:c.112A>G ENSP00000362690.4:p.Lys38Glu
ENST00000455734.1:c.112A>G ENSP00000393245.1:p.Lys38Glu
ENST00000620110.4:c.112A>G ENSP00000483309.1:p.Lys38Glu
NM_004959.4:c.112A>G NP_004950.2:p.Lys38Glu
XM_005251871.2:c.112A>G XP_005251928.1:p.Lys38Glu
XM_005251872.3:c.-18+83A>G XP_005251929.1:n.-18+83A>G
XM_011518455.1:c.112A>G XP_011516757.1:p.Lys38Glu
XM_011518456.1:c.112A>G XP_011516758.1:p.Lys38Glu
NM_004959.5:c.112A>G MANE Select NP_004950.2:p.Lys38Glu
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