Canonical Allele Identifier: CA374886816
Gene: NR5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1267292857

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500404G>A , CM000671.2:g.124500404G>A GRCh38
NC_000009.11:g.127262683G>A , CM000671.1:g.127262683G>A GRCh37
NC_000009.10:g.126302504G>A NCBI36
NG_008176.1:g.12017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.556C>T MANE Select ENSP00000362690.4:p.Pro186Ser
ENST00000373587.3:c.40-132C>T ENSP00000362689.3:n.40-132C>T
ENST00000373588.8:c.556C>T ENSP00000362690.4:p.Pro186Ser
ENST00000620110.4:c.556C>T ENSP00000483309.1:p.Pro186Ser
NM_004959.4:c.556C>T NP_004950.2:p.Pro186Ser
XM_005251871.2:c.556C>T XP_005251928.1:p.Pro186Ser
XM_005251872.3:c.295C>T XP_005251929.1:p.Pro99Ser
XM_011518455.1:c.556C>T XP_011516757.1:p.Pro186Ser
XM_011518456.1:c.556C>T XP_011516758.1:p.Pro186Ser
NM_004959.5:c.556C>T MANE Select NP_004950.2:p.Pro186Ser