Canonical Allele Identifier: CA034655

Gene: NR5A1

Linked Data

• PubMed: PMID:19246354 ; PMID:20887963

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.[124500574G>A;124500592C>G] , CM000671.2:g.[124500574G>A;124500592C>G]	GRCh38
NC_000009.11:g.[127262853G>A;127262871C>G] , CM000671.1:g.[127262853G>A;127262871C>G]	GRCh37
NC_000009.10:g.[126302674G>A;126302692C>G]	NCBI36
NG_008176.1:g.[11829G>C;11847C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.[368G>C;386C>T] MANE Select	ENSP00000362690.4:p.[Gly123Ala;Pro129Leu]
ENST00000373587.3:c.[40-320G>C;40-302C>T]	ENSP00000362689.3:n.[40-320G>C;40-302C>T]
ENST00000373588.8:c.[368G>C;386C>T]	ENSP00000362690.4:p.[Gly123Ala;Pro129Leu]
ENST00000455734.1:c.[368G>C;386C>T]	ENSP00000393245.1:p.[Gly123Ala;Pro129Leu]
ENST00000620110.4:c.[368G>C;386C>T]	ENSP00000483309.1:p.[Gly123Ala;Pro129Leu]
NM_004959.4:c.[368G>C;386C>T]	NP_004950.2:p.[Gly123Ala;Pro129Leu]
XM_005251871.2:c.[368G>C;386C>T]	XP_005251928.1:p.[Gly123Ala;Pro129Leu]
XM_005251872.3:c.[107G>C;125C>T]	XP_005251929.1:p.[Gly36Ala;Pro42Leu]
XM_011518455.1:c.[368G>C;386C>T]	XP_011516757.1:p.[Gly123Ala;Pro129Leu]
XM_011518456.1:c.[368G>C;386C>T]	XP_011516758.1:p.[Gly123Ala;Pro129Leu]
NM_004959.5:c.[368G>C;386C>T] MANE Select	NP_004950.2:p.[Gly123Ala;Pro129Leu]