Canonical Allele Identifier: CA560770412
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 559721
ClinVar RCV Id: RCV000677496
dbSNP Id: rs1310996698
gnomAD v2: 5-78076265-GGGGTCCTGTGCAGGGAAGTACAC-G
gnomAD v3: 5-78780442-GGGGTCCTGTGCAGGGAAGTACAC-G
gnomAD v4: 5-78780442-GGGGTCCTGTGCAGGGAAGTACAC-G
MyVariant Identifiers: chr5:g.78076266_78076288del (hg19) chr5:g.78780443_78780465del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780446_78780468del , CM000667.2:g.78780446_78780468del GRCh38
NC_000005.9:g.78076269_78076291del , CM000667.1:g.78076269_78076291del GRCh37
NC_000005.8:g.78112025_78112047del NCBI36
NG_007089.1:g.211070_211092del

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1534_1556del MANE Select ENSP00000264914.4:p.Val512ProfsTer3
ENST00000264914.8:c.1534_1556del ENSP00000264914.4:p.Val512ProfsTer3
ENST00000521011.1:n.499_521del
NM_000046.3:c.1534_1556del NP_000037.2:p.Val512ProfsTer3
XM_011543390.1:c.1534_1556del XP_011541692.1:p.Val512ProfsTer3
NM_000046.4:c.1534_1556del NP_000037.2:p.Val512ProfsTer3
NM_000046.5:c.1534_1556del MANE Select NP_000037.2:p.Val512ProfsTer3
Search 100 bp 5'
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