Canonical Allele Identifier: CA10625105

Gene: ARSB

Linked Data

• ClinVar Variation Id: 354320
• ClinVar RCV Id: RCV000357214 ; RCV001672666
• dbSNP Id: rs72764913
• gnomAD v2: 5-78281336-C-T
• gnomAD v3: 5-78985513-C-T
• gnomAD v4: 5-78985513-C-T
• MyVariant Identifiers: chr5:g.78281336C>T (hg19) ; chr5:g.78985513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78985513C>T , CM000667.2:g.78985513C>T	GRCh38
NC_000005.9:g.78281336C>T , CM000667.1:g.78281336C>T	GRCh37
NC_000005.8:g.78317092C>T	NCBI36
NG_007089.1:g.6022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.8:c.-265G>A	ENSP00000264914.4:n.-265G>A
ENST00000396151.7:c.-265G>A	ENSP00000379455.3:n.-265G>A
ENST00000521117.1:c.-265G>A	ENSP00000428611.1:n.-265G>A
ENST00000565165.1:c.-265G>A	ENSP00000456339.1:n.-265G>A
NM_000046.3:c.-265G>A	NP_000037.2:n.-265G>A
NM_198709.2:c.-265G>A	NP_942002.1:n.-265G>A
XM_011543390.1:c.-265G>A	XP_011541692.1:n.-265G>A
NM_000046.4:c.-265G>A	NP_000037.2:n.-265G>A
NM_198709.3:c.-265G>A	NP_942002.1:n.-265G>A