Canonical Allele Identifier: CA365559382
Community Standard Title: NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr)
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447449C>A , CM000668.2:g.121447449C>A GRCh38
NC_000006.11:g.121768595C>A , CM000668.1:g.121768595C>A GRCh37
NC_000006.10:g.121810294C>A NCBI36
NG_008308.1:g.16851C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000165.5:c.602C>A MANE Select NP_000156.1:p.Ser201Tyr
ENST00000282561.4:c.602C>A MANE Select ENSP00000282561.3:p.Ser201Tyr
NM_000165.4:c.602C>A NP_000156.1:p.Ser201Tyr
ENST00000282561.3:c.602C>A ENSP00000282561.3:p.Ser201Tyr
ENST00000647564.1:c.602C>A ENSP00000497565.1:p.Ser201Tyr
ENST00000649003.1:c.602C>A ENSP00000497283.1:p.Ser201Tyr
ENST00000650427.1:c.602C>A ENSP00000497367.1:p.Ser201Tyr
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