Canonical Allele Identifier: CA279017

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 216976
• ClinVar RCV Id: RCV000199384
• dbSNP Id: rs863224904
• MyVariant Identifiers: chr9:g.127245213A>C (hg19) ; chr9:g.124482934A>C (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124482934A>C , CM000671.2:g.124482934A>C	GRCh38
NC_000009.11:g.127245213A>C , CM000671.1:g.127245213A>C	GRCh37
NC_000009.10:g.126285034A>C	NCBI36
NG_008176.1:g.29487T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.1210T>G MANE Select	ENSP00000362690.4:p.Tyr404Asp
ENST00000373587.3:c.562T>G	ENSP00000362689.3:p.Tyr188Asp
ENST00000373588.8:c.1210T>G	ENSP00000362690.4:p.Tyr404Asp
ENST00000620110.4:c.1090T>G	ENSP00000483309.1:p.Tyr364Asp
NM_004959.4:c.1210T>G	NP_004950.2:p.Tyr404Asp
XM_005251871.2:c.1210T>G	XP_005251928.1:p.Tyr404Asp
XM_005251872.3:c.949T>G	XP_005251929.1:p.Tyr317Asp
XM_011518455.1:c.1210T>G	XP_011516757.1:p.Tyr404Asp
XM_011518456.1:c.*66T>G	XP_011516758.1:n.*66T>G
NM_004959.5:c.1210T>G MANE Select	NP_004950.2:p.Tyr404Asp