Canonical Allele Identifier: CA11787541

Gene: ARSJ

Linked Data

• dbSNP Id: rs7658266
• gnomAD v2: 4-114863706-T-C
• gnomAD v3: 4-113942550-T-C
• gnomAD v4: 4-113942550-T-C
• MyVariant Identifiers: chr4:g.114863706T>C (hg19) ; chr4:g.113942550T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.113942550T>C , CM000666.2:g.113942550T>C	GRCh38
NC_000004.11:g.114863706T>C , CM000666.1:g.114863706T>C	GRCh37
NC_000004.10:g.115083155T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000315366.8:c.398+35887A>G MANE Select	ENSP00000320219.7:n.398+35887A>G
ENST00000636527.1:n.399+27925A>G
ENST00000315366.7:c.398+35887A>G	ENSP00000320219.7:n.398+35887A>G
ENST00000509829.1:c.399-35805A>G	ENSP00000421327.1:n.399-35805A>G
NM_024590.3:c.398+35887A>G	NP_078866.3:n.398+35887A>G
XM_005263212.3:c.398+35887A>G	XP_005263269.1:n.398+35887A>G
XM_005263213.2:c.-119+36906A>G	XP_005263270.1:n.-119+36906A>G
XM_011532239.1:c.-1+27925A>G	XP_011530541.1:n.-1+27925A>G
XM_011532240.1:c.1-35805A>G	XP_011530542.1:n.1-35805A>G
XM_011532241.1:c.-199-35805A>G	XP_011530543.1:n.-199-35805A>G
XM_011532242.1:c.-119+27925A>G	XP_011530544.1:n.-119+27925A>G
XR_938770.1:n.1380+35887A>G
NM_001354210.1:c.398+35887A>G	NP_001341139.1:n.398+35887A>G
NM_001354211.1:c.-1+27925A>G	NP_001341140.1:n.-1+27925A>G
XM_011532239.2:c.-1+27925A>G	XP_011530541.1:n.-1+27925A>G
XM_017008592.2:c.398+35887A>G	XP_016864081.1:n.398+35887A>G
XM_017008593.2:c.-1+27925A>G	XP_016864082.1:n.-1+27925A>G
XM_017008594.2:c.-1+27925A>G	XP_016864083.1:n.-1+27925A>G
XM_017008595.2:c.-1+17426A>G	XP_016864084.1:n.-1+17426A>G
XM_017008597.2:c.-200+27925A>G	XP_016864086.1:n.-200+27925A>G
XM_017008598.2:c.-119+27925A>G	XP_016864087.1:n.-119+27925A>G
XM_017008599.2:c.-199-35805A>G	XP_016864088.1:n.-199-35805A>G
XM_017008600.1:c.-119+27925A>G	XP_016864089.1:n.-119+27925A>G
XM_024454214.1:c.398+35887A>G	XP_024309982.1:n.398+35887A>G
XM_024454216.1:c.1-35805A>G	XP_024309984.1:n.1-35805A>G
NM_024590.4:c.398+35887A>G MANE Select	NP_078866.3:n.398+35887A>G
NM_001354210.2:c.398+35887A>G	NP_001341139.1:n.398+35887A>G
NM_001354211.2:c.-1+27925A>G	NP_001341140.1:n.-1+27925A>G