×
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:
CA354153069
Gene: CSTA
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.122060287T>C (hg19)
chr3:g.122341440T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.122341440T>C , CM000665.2:g.122341440T>C
GRCh38
NC_000003.11:g.122060287T>C , CM000665.1:g.122060287T>C
GRCh37
NC_000003.10:g.123542977T>C
NCBI36
NG_027995.1:g.21277T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000264474.4:c.170T>C
MANE Select
ENSP00000264474.3:p.Val57Ala
ENST00000264474.3:c.170T>C
ENSP00000264474.3:p.Val57Ala
NM_005213.3:c.170T>C
NP_005204.1:p.Val57Ala
NM_005213.4:c.170T>C
MANE Select
NP_005204.1:p.Val57Ala
Search 100 bp 5'
Search 100 bp 3'