Canonical Allele Identifier: CA365558261
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1239606179
MyVariant Identifiers: chr6:g.121768205C>T (hg19) chr6:g.121447059C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447059C>T , CM000668.2:g.121447059C>T GRCh38
NC_000006.11:g.121768205C>T , CM000668.1:g.121768205C>T GRCh37
NC_000006.10:g.121809904C>T NCBI36
NG_008308.1:g.16461C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.212C>T MANE Select ENSP00000282561.3:p.Pro71Leu
ENST00000647564.1:c.212C>T ENSP00000497565.1:p.Pro71Leu
ENST00000649003.1:c.212C>T ENSP00000497283.1:p.Pro71Leu
ENST00000650427.1:c.212C>T ENSP00000497367.1:p.Pro71Leu
ENST00000282561.3:c.212C>T ENSP00000282561.3:p.Pro71Leu
NM_000165.4:c.212C>T NP_000156.1:p.Pro71Leu
NM_000165.5:c.212C>T MANE Select NP_000156.1:p.Pro71Leu
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Search 100 bp 3'