×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA351319886
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2159394
ClinVar RCV Id:
RCV003072792
RCV003475507
gnomAD v4:
2-240878803-C-A
MyVariant Identifiers:
chr2:g.241818220C>A (hg19)
chr2:g.240878803C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240878803C>A , CM000664.2:g.240878803C>A
GRCh38
NC_000002.11:g.241818220C>A , CM000664.1:g.241818220C>A
GRCh37
NC_000002.10:g.241466893C>A
NCBI36
NG_008005.1:g.15059C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.1161C>A
MANE Select
ENSP00000302620.3:p.Cys387Ter
ENST00000307503.3:c.1161C>A
ENSP00000302620.3:p.Cys387Ter
ENST00000470255.1:n.939C>A
NM_000030.2:c.1161C>A
NP_000021.1:p.Cys387Ter
NM_000030.3:c.1161C>A
MANE Select
NP_000021.1:p.Cys387Ter
Search 100 bp 5'
Search 100 bp 3'