Canonical Allele Identifier: CA467208476

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124503309-C-A
• MyVariant Identifiers: chr9:g.127265588C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503309C>A , CM000671.2:g.124503309C>A	GRCh38
NC_000009.11:g.127265588C>A , CM000671.1:g.127265588C>A	GRCh37
NC_000009.10:g.126305409C>A	NCBI36
NG_008176.1:g.9112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.87G>T MANE Select	ENSP00000362690.4:p.Thr29=
ENST00000373588.8:c.87G>T	ENSP00000362690.4:p.Thr29=
ENST00000455734.1:c.87G>T	ENSP00000393245.1:p.Thr29=
ENST00000620110.4:c.87G>T	ENSP00000483309.1:p.Thr29=
NM_004959.4:c.87G>T	NP_004950.2:p.Thr29=
XM_005251871.2:c.87G>T	XP_005251928.1:p.Thr29=
XM_005251872.3:c.-33G>T	XP_005251929.1:n.-33G>T
XM_011518455.1:c.87G>T	XP_011516757.1:p.Thr29=
XM_011518456.1:c.87G>T	XP_011516758.1:p.Thr29=
NM_004959.5:c.87G>T MANE Select	NP_004950.2:p.Thr29=