Canonical Allele Identifier: CA374889355
Gene: NR5A1 HGNC NCBI

Linked Data

COSMIC: COSM1624534
MyVariant Identifiers: chr9:g.127263239G>T (hg19) chr9:g.124500960G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500960G>T , CM000671.2:g.124500960G>T GRCh38
NC_000009.11:g.127263239G>T , CM000671.1:g.127263239G>T GRCh37
NC_000009.10:g.126303060G>T NCBI36
NG_008176.1:g.11461C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.245-245C>A MANE Select ENSP00000362690.4:n.245-245C>A
ENST00000373587.3:c.27C>A ENSP00000362689.3:p.Asn9Lys
ENST00000373588.8:c.245-245C>A ENSP00000362690.4:n.245-245C>A
ENST00000455734.1:c.245-245C>A ENSP00000393245.1:n.245-245C>A
ENST00000620110.4:c.245-245C>A ENSP00000483309.1:n.245-245C>A
NM_004959.4:c.245-245C>A NP_004950.2:n.245-245C>A
XM_005251871.2:c.245-245C>A XP_005251928.1:n.245-245C>A
XM_005251872.3:c.-17-245C>A XP_005251929.1:n.-17-245C>A
XM_011518455.1:c.245-245C>A XP_011516757.1:n.245-245C>A
XM_011518456.1:c.245-245C>A XP_011516758.1:n.245-245C>A
NM_004959.5:c.245-245C>A MANE Select NP_004950.2:n.245-245C>A
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