Canonical Allele Identifier: CA374890014

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127265356A>C (hg19) ; chr9:g.124503077A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503077A>C , CM000671.2:g.124503077A>C	GRCh38
NC_000009.11:g.127265356A>C , CM000671.1:g.127265356A>C	GRCh37
NC_000009.10:g.126305177A>C	NCBI36
NG_008176.1:g.9344T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+2T>G MANE Select	ENSP00000362690.4:n.244+2T>G
ENST00000373588.8:c.244+2T>G	ENSP00000362690.4:n.244+2T>G
ENST00000455734.1:c.244+2T>G	ENSP00000393245.1:n.244+2T>G
ENST00000620110.4:c.244+2T>G	ENSP00000483309.1:n.244+2T>G
NM_004959.4:c.244+2T>G	NP_004950.2:n.244+2T>G
XM_005251871.2:c.244+2T>G	XP_005251928.1:n.244+2T>G
XM_005251872.3:c.-18+217T>G	XP_005251929.1:n.-18+217T>G
XM_011518455.1:c.244+2T>G	XP_011516757.1:n.244+2T>G
XM_011518456.1:c.244+2T>G	XP_011516758.1:n.244+2T>G
NM_004959.5:c.244+2T>G MANE Select	NP_004950.2:n.244+2T>G