Canonical Allele Identifier: CA467208317

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124503083-C-A
• MyVariant Identifiers: chr9:g.127265362C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503083C>A , CM000671.2:g.124503083C>A	GRCh38
NC_000009.11:g.127265362C>A , CM000671.1:g.127265362C>A	GRCh37
NC_000009.10:g.126305183C>A	NCBI36
NG_008176.1:g.9338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.240G>T MANE Select	ENSP00000362690.4:p.Leu80=
ENST00000373588.8:c.240G>T	ENSP00000362690.4:p.Leu80=
ENST00000455734.1:c.240G>T	ENSP00000393245.1:p.Leu80=
ENST00000620110.4:c.240G>T	ENSP00000483309.1:p.Leu80=
NM_004959.4:c.240G>T	NP_004950.2:p.Leu80=
XM_005251871.2:c.240G>T	XP_005251928.1:p.Leu80=
XM_005251872.3:c.-18+211G>T	XP_005251929.1:n.-18+211G>T
XM_011518455.1:c.240G>T	XP_011516757.1:p.Leu80=
XM_011518456.1:c.240G>T	XP_011516758.1:p.Leu80=
NM_004959.5:c.240G>T MANE Select	NP_004950.2:p.Leu80=