Canonical Allele Identifier: CA1143345748

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038313C= , CM000663.2:g.200038313C=	GRCh38
NC_000001.10:g.200007441C= , CM000663.1:g.200007441C=	GRCh37
NC_000001.9:g.198274064C=	NCBI36
NG_050913.1:g.15712C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1345C= MANE Select	ENSP00000356331.3:n.65-1345C=
ENST00000236914.7:c.65-5461C=	ENSP00000236914.3:n.65-5461C=
ENST00000367362.7:c.65-1345C=	ENSP00000356331.3:n.65-1345C=
ENST00000447034.1:c.30-388C=
ENST00000474307.1:c.*419-5461C=	ENSP00000436776.1:n.*419-5461C=
NM_003822.4:c.65-5461C=	NP_003813.1:n.65-5461C=
NM_205860.2:c.65-1345C=	NP_995582.1:n.65-1345C=
XM_011509380.1:c.-56-1345C=	XP_011507682.1:n.-56-1345C=
XM_011509382.1:c.-14-5461C=	XP_011507684.1:n.-14-5461C=
XM_011509381.3:c.-516C=	XP_011507683.1:n.-516C=
NM_205860.3:c.65-1345C= MANE Select	NP_995582.1:n.65-1345C=
NM_003822.5:c.65-5461C=	NP_003813.1:n.65-5461C=