Canonical Allele Identifier: CA365559326
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 941061
ClinVar RCV Id: RCV001210771
dbSNP Id: rs1773907180
MyVariant Identifiers: chr6:g.121768570C>G (hg19) chr6:g.121447424C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447424C>G , CM000668.2:g.121447424C>G GRCh38
NC_000006.11:g.121768570C>G , CM000668.1:g.121768570C>G GRCh37
NC_000006.10:g.121810269C>G NCBI36
NG_008308.1:g.16826C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.577C>G MANE Select ENSP00000282561.3:p.Pro193Ala
ENST00000647564.1:c.577C>G ENSP00000497565.1:p.Pro193Ala
ENST00000649003.1:c.577C>G ENSP00000497283.1:p.Pro193Ala
ENST00000650427.1:c.577C>G ENSP00000497367.1:p.Pro193Ala
ENST00000282561.3:c.577C>G ENSP00000282561.3:p.Pro193Ala
NM_000165.4:c.577C>G NP_000156.1:p.Pro193Ala
NM_000165.5:c.577C>G MANE Select NP_000156.1:p.Pro193Ala
Search 100 bp 5'
Search 100 bp 3'