Canonical Allele Identifier: CA365558017
Gene: GJA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446995T>C , CM000668.2:g.121446995T>C GRCh38
NC_000006.11:g.121768141T>C , CM000668.1:g.121768141T>C GRCh37
NC_000006.10:g.121809840T>C NCBI36
NG_008308.1:g.16397T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.148T>C MANE Select ENSP00000282561.3:p.Ser50Pro
ENST00000647564.1:c.148T>C ENSP00000497565.1:p.Ser50Pro
ENST00000649003.1:c.148T>C ENSP00000497283.1:p.Ser50Pro
ENST00000650427.1:c.148T>C ENSP00000497367.1:p.Ser50Pro
ENST00000282561.3:c.148T>C ENSP00000282561.3:p.Ser50Pro
NM_000165.4:c.148T>C NP_000156.1:p.Ser50Pro
NM_000165.5:c.148T>C MANE Select NP_000156.1:p.Ser50Pro