Canonical Allele Identifier: CA365559324
Gene: GJA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.121768570C>A (hg19) chr6:g.121447424C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.577C>A MANE Select ENSP00000282561.3:p.Pro193Thr
ENST00000647564.1:c.577C>A ENSP00000497565.1:p.Pro193Thr
ENST00000649003.1:c.577C>A ENSP00000497283.1:p.Pro193Thr
ENST00000650427.1:c.577C>A ENSP00000497367.1:p.Pro193Thr
ENST00000282561.3:c.577C>A ENSP00000282561.3:p.Pro193Thr
NM_000165.4:c.577C>A NP_000156.1:p.Pro193Thr
NM_000165.5:c.577C>A MANE Select NP_000156.1:p.Pro193Thr
Search 100 bp 5'
Search 100 bp 3'