Canonical Allele Identifier: CA467208482
Gene: NR5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.127265591G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503312G>T , CM000671.2:g.124503312G>T GRCh38
NC_000009.11:g.127265591G>T , CM000671.1:g.127265591G>T GRCh37
NC_000009.10:g.126305412G>T NCBI36
NG_008176.1:g.9109C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.84C>A MANE Select ENSP00000362690.4:p.Leu28=
ENST00000373588.8:c.84C>A ENSP00000362690.4:p.Leu28=
ENST00000455734.1:c.84C>A ENSP00000393245.1:p.Leu28=
ENST00000620110.4:c.84C>A ENSP00000483309.1:p.Leu28=
NM_004959.4:c.84C>A NP_004950.2:p.Leu28=
XM_005251871.2:c.84C>A XP_005251928.1:p.Leu28=
XM_005251872.3:c.-36C>A XP_005251929.1:n.-36C>A
XM_011518455.1:c.84C>A XP_011516757.1:p.Leu28=
XM_011518456.1:c.84C>A XP_011516758.1:p.Leu28=
NM_004959.5:c.84C>A MANE Select NP_004950.2:p.Leu28=
Search 100 bp 5'
Search 100 bp 3'