×
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:
CA365557701
Gene: GJA1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.121767995T>C (hg19)
chr6:g.121446849T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.121446849T>C , CM000668.2:g.121446849T>C
GRCh38
NC_000006.11:g.121767995T>C , CM000668.1:g.121767995T>C
GRCh37
NC_000006.10:g.121809694T>C
NCBI36
NG_008308.1:g.16251T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000282561.4:c.2T>C
MANE Select
ENSP00000282561.3:p.Met1Thr
ENST00000647564.1:c.2T>C
ENSP00000497565.1:p.Met1Thr
ENST00000649003.1:c.2T>C
ENSP00000497283.1:p.Met1Thr
ENST00000650427.1:c.2T>C
ENSP00000497367.1:p.Met1Thr
ENST00000282561.3:c.2T>C
ENSP00000282561.3:p.Met1Thr
NM_000165.4:c.2T>C
NP_000156.1:p.Met1Thr
NM_000165.5:c.2T>C
MANE Select
NP_000156.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'