Canonical Allele Identifier: CA374890254
Gene: NR5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.127265402A>C (hg19) chr9:g.124503123A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503123A>C , CM000671.2:g.124503123A>C GRCh38
NC_000009.11:g.127265402A>C , CM000671.1:g.127265402A>C GRCh37
NC_000009.10:g.126305223A>C NCBI36
NG_008176.1:g.9298T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.200T>G MANE Select ENSP00000362690.4:p.Phe67Cys
ENST00000373588.8:c.200T>G ENSP00000362690.4:p.Phe67Cys
ENST00000455734.1:c.200T>G ENSP00000393245.1:p.Phe67Cys
ENST00000620110.4:c.200T>G ENSP00000483309.1:p.Phe67Cys
NM_004959.4:c.200T>G NP_004950.2:p.Phe67Cys
XM_005251871.2:c.200T>G XP_005251928.1:p.Phe67Cys
XM_005251872.3:c.-18+171T>G XP_005251929.1:n.-18+171T>G
XM_011518455.1:c.200T>G XP_011516757.1:p.Phe67Cys
XM_011518456.1:c.200T>G XP_011516758.1:p.Phe67Cys
NM_004959.5:c.200T>G MANE Select NP_004950.2:p.Phe67Cys
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