Canonical Allele Identifier: CA467208127

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500530-G-A
• MyVariant Identifiers: chr9:g.127262809G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500530G>A , CM000671.2:g.124500530G>A	GRCh38
NC_000009.11:g.127262809G>A , CM000671.1:g.127262809G>A	GRCh37
NC_000009.10:g.126302630G>A	NCBI36
NG_008176.1:g.11891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.430C>T MANE Select	ENSP00000362690.4:p.Leu144=
ENST00000373587.3:c.40-258C>T	ENSP00000362689.3:n.40-258C>T
ENST00000373588.8:c.430C>T	ENSP00000362690.4:p.Leu144=
ENST00000455734.1:c.430C>T	ENSP00000393245.1:p.Leu144=
ENST00000620110.4:c.430C>T	ENSP00000483309.1:p.Leu144=
NM_004959.4:c.430C>T	NP_004950.2:p.Leu144=
XM_005251871.2:c.430C>T	XP_005251928.1:p.Leu144=
XM_005251872.3:c.169C>T	XP_005251929.1:p.Leu57=
XM_011518455.1:c.430C>T	XP_011516757.1:p.Leu144=
XM_011518456.1:c.430C>T	XP_011516758.1:p.Leu144=
NM_004959.5:c.430C>T MANE Select	NP_004950.2:p.Leu144=