Canonical Allele Identifier: CA374888719

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127262922T>G (hg19) ; chr9:g.124500643T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500643T>G , CM000671.2:g.124500643T>G	GRCh38
NC_000009.11:g.127262922T>G , CM000671.1:g.127262922T>G	GRCh37
NC_000009.10:g.126302743T>G	NCBI36
NG_008176.1:g.11778A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.317A>C MANE Select	ENSP00000362690.4:p.Lys106Thr
ENST00000373587.3:c.39+305A>C	ENSP00000362689.3:n.39+305A>C
ENST00000373588.8:c.317A>C	ENSP00000362690.4:p.Lys106Thr
ENST00000455734.1:c.317A>C	ENSP00000393245.1:p.Lys106Thr
ENST00000620110.4:c.317A>C	ENSP00000483309.1:p.Lys106Thr
NM_004959.4:c.317A>C	NP_004950.2:p.Lys106Thr
XM_005251871.2:c.317A>C	XP_005251928.1:p.Lys106Thr
XM_005251872.3:c.56A>C	XP_005251929.1:p.Lys19Thr
XM_011518455.1:c.317A>C	XP_011516757.1:p.Lys106Thr
XM_011518456.1:c.317A>C	XP_011516758.1:p.Lys106Thr
NM_004959.5:c.317A>C MANE Select	NP_004950.2:p.Lys106Thr