Canonical Allele Identifier: CA374890632

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 1493513
• ClinVar RCV Id: RCV001984432
• dbSNP Id: rs2131289952
• MyVariant Identifiers: chr9:g.127265573C>G (hg19) ; chr9:g.124503294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503294C>G , CM000671.2:g.124503294C>G	GRCh38
NC_000009.11:g.127265573C>G , CM000671.1:g.127265573C>G	GRCh37
NC_000009.10:g.126305394C>G	NCBI36
NG_008176.1:g.9127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.102G>C MANE Select	ENSP00000362690.4:p.Lys34Asn
ENST00000373588.8:c.102G>C	ENSP00000362690.4:p.Lys34Asn
ENST00000455734.1:c.102G>C	ENSP00000393245.1:p.Lys34Asn
ENST00000620110.4:c.102G>C	ENSP00000483309.1:p.Lys34Asn
NM_004959.4:c.102G>C	NP_004950.2:p.Lys34Asn
XM_005251871.2:c.102G>C	XP_005251928.1:p.Lys34Asn
XM_005251872.3:c.-18G>C	XP_005251929.1:n.-18G>C
XM_011518455.1:c.102G>C	XP_011516757.1:p.Lys34Asn
XM_011518456.1:c.102G>C	XP_011516758.1:p.Lys34Asn
NM_004959.5:c.102G>C MANE Select	NP_004950.2:p.Lys34Asn