Canonical Allele Identifier: CA2691630915

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124503405-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503405G>A , CM000671.2:g.124503405G>A	GRCh38
NC_000009.11:g.127265684G>A , CM000671.1:g.127265684G>A	GRCh37
NC_000009.10:g.126305505G>A	NCBI36
NG_008176.1:g.9016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.-10C>T MANE Select	ENSP00000362690.4:n.-10C>T
ENST00000373588.8:c.-10C>T	ENSP00000362690.4:n.-10C>T
ENST00000455734.1:c.-10C>T	ENSP00000393245.1:n.-10C>T
ENST00000620110.4:c.-10C>T	ENSP00000483309.1:n.-10C>T
NM_004959.4:c.-10C>T	NP_004950.2:n.-10C>T
XM_005251871.2:c.-10C>T	XP_005251928.1:n.-10C>T
XM_005251872.3:c.-129C>T	XP_005251929.1:n.-129C>T
XM_011518455.1:c.-10C>T	XP_011516757.1:n.-10C>T
XM_011518456.1:c.-10C>T	XP_011516758.1:n.-10C>T
NM_004959.5:c.-10C>T MANE Select	NP_004950.2:n.-10C>T