Canonical Allele Identifier: CA199729248

Gene: NR5A1

Linked Data

• dbSNP Id: rs944569341
• gnomAD v2: 9-127262986-C-T
• gnomAD v3: 9-124500707-C-T
• gnomAD v4: 9-124500707-C-T
• COSMIC: COSM3324646
• MyVariant Identifiers: chr9:g.127262986C>T (hg19) ; chr9:g.124500707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500707C>T , CM000671.2:g.124500707C>T	GRCh38
NC_000009.11:g.127262986C>T , CM000671.1:g.127262986C>T	GRCh37
NC_000009.10:g.126302807C>T	NCBI36
NG_008176.1:g.11714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.253G>A MANE Select	ENSP00000362690.4:p.Ala85Thr
ENST00000373587.3:c.39+241G>A	ENSP00000362689.3:n.39+241G>A
ENST00000373588.8:c.253G>A	ENSP00000362690.4:p.Ala85Thr
ENST00000455734.1:c.253G>A	ENSP00000393245.1:p.Ala85Thr
ENST00000620110.4:c.253G>A	ENSP00000483309.1:p.Ala85Thr
NM_004959.4:c.253G>A	NP_004950.2:p.Ala85Thr
XM_005251871.2:c.253G>A	XP_005251928.1:p.Ala85Thr
XM_005251872.3:c.-9G>A	XP_005251929.1:n.-9G>A
XM_011518455.1:c.253G>A	XP_011516757.1:p.Ala85Thr
XM_011518456.1:c.253G>A	XP_011516758.1:p.Ala85Thr
NM_004959.5:c.253G>A MANE Select	NP_004950.2:p.Ala85Thr