Canonical Allele Identifier: CA2832528955
Gene: NR5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503095dup , CM000671.2:g.124503095dup GRCh38
NC_000009.11:g.127265374dup , CM000671.1:g.127265374dup GRCh37
NC_000009.10:g.126305195dup NCBI36
NG_008176.1:g.9329dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.231dup MANE Select ENSP00000362690.4:p.Met78AspfsTer9
ENST00000373588.8:c.231dup ENSP00000362690.4:p.Met78AspfsTer9
ENST00000455734.1:c.231dup ENSP00000393245.1:p.Met78AspfsTer9
ENST00000620110.4:c.231dup ENSP00000483309.1:p.Met78AspfsTer9
NM_004959.4:c.231dup NP_004950.2:p.Met78AspfsTer9
XM_005251871.2:c.231dup XP_005251928.1:p.Met78AspfsTer9
XM_005251872.3:c.-18+202dup XP_005251929.1:n.-18+202dup
XM_011518455.1:c.231dup XP_011516757.1:p.Met78AspfsTer9
XM_011518456.1:c.231dup XP_011516758.1:p.Met78AspfsTer9
NM_004959.5:c.231dup MANE Select NP_004950.2:p.Met78AspfsTer9
Search 100 bp 5'
Search 100 bp 3'