Canonical Allele Identifier: CA1219157620
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038309C= , CM000663.2:g.200038309C= GRCh38
NC_000001.10:g.200007437C= , CM000663.1:g.200007437C= GRCh37
NC_000001.9:g.198274060C= NCBI36
NG_050913.1:g.15708C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367362.8:c.65-1349C= MANE Select ENSP00000356331.3:n.65-1349C=
ENST00000236914.7:c.65-5465C= ENSP00000236914.3:n.65-5465C=
ENST00000367362.7:c.65-1349C= ENSP00000356331.3:n.65-1349C=
ENST00000447034.1:c.30-392C=
ENST00000474307.1:c.*419-5465C= ENSP00000436776.1:n.*419-5465C=
NM_003822.4:c.65-5465C= NP_003813.1:n.65-5465C=
NM_205860.2:c.65-1349C= NP_995582.1:n.65-1349C=
XM_011509380.1:c.-56-1349C= XP_011507682.1:n.-56-1349C=
XM_011509382.1:c.-14-5465C= XP_011507684.1:n.-14-5465C=
XM_011509381.3:c.-520C= XP_011507683.1:n.-520C=
NM_205860.3:c.65-1349C= MANE Select NP_995582.1:n.65-1349C=
NM_003822.5:c.65-5465C= NP_003813.1:n.65-5465C=