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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA16618212
Gene: ARSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418018
ClinVar RCV Id:
RCV000482506
RCV000677488
dbSNP Id:
rs1064793027
gnomAD v2:
5-78076373-T-A
gnomAD v3:
5-78780550-T-A
gnomAD v4:
5-78780550-T-A
MyVariant Identifiers:
chr5:g.78076373T>A (hg19)
chr5:g.78780550T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.78780550T>A , CM000667.2:g.78780550T>A
GRCh38
NC_000005.9:g.78076373T>A , CM000667.1:g.78076373T>A
GRCh37
NC_000005.8:g.78112129T>A
NCBI36
NG_007089.1:g.210985A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000264914.10:c.1449A>T
MANE Select
ENSP00000264914.4:p.Glu483Asp
ENST00000264914.8:c.1449A>T
ENSP00000264914.4:p.Glu483Asp
ENST00000521011.1:n.414A>T
NM_000046.3:c.1449A>T
NP_000037.2:p.Glu483Asp
XM_011543390.1:c.1449A>T
XP_011541692.1:p.Glu483Asp
NM_000046.4:c.1449A>T
NP_000037.2:p.Glu483Asp
NM_000046.5:c.1449A>T
MANE Select
NP_000037.2:p.Glu483Asp
Search 100 bp 5'
Search 100 bp 3'