Canonical Allele Identifier: CA3318000

Gene: ARSB

Linked Data

• ClinVar Variation Id: 354308
• ClinVar RCV Id: RCV000267210
• dbSNP Id: rs183651028
• ExAC: 5:78076488 A / T
• gnomAD v2: 5-78076488-A-T
• gnomAD v3: 5-78780665-A-T
• gnomAD v4: 5-78780665-A-T
• MyVariant Identifiers: chr5:g.78076488A>T (hg19) ; chr5:g.78780665A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78780665A>T , CM000667.2:g.78780665A>T	GRCh38
NC_000005.9:g.78076488A>T , CM000667.1:g.78076488A>T	GRCh37
NC_000005.8:g.78112244A>T	NCBI36
NG_007089.1:g.210870T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1337-3T>A MANE Select	ENSP00000264914.4:n.1337-3T>A
ENST00000264914.8:c.1337-3T>A	ENSP00000264914.4:n.1337-3T>A
ENST00000521011.1:n.302-3T>A
NM_000046.3:c.1337-3T>A	NP_000037.2:n.1337-3T>A
XM_011543390.1:c.1337-3T>A	XP_011541692.1:n.1337-3T>A
NM_000046.4:c.1337-3T>A	NP_000037.2:n.1337-3T>A
NM_000046.5:c.1337-3T>A MANE Select	NP_000037.2:n.1337-3T>A