Canonical Allele Identifier: CA1659501467
Community Standard Title: NM_000165.5(GJA1):c.50A= (p.Tyr17=)
Gene: GJA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446897A= , CM000668.2:g.121446897A= GRCh38
NC_000006.11:g.121768043A= , CM000668.1:g.121768043A= GRCh37
NC_000006.10:g.121809742A= NCBI36
NG_008308.1:g.16299A=

Transcript Alleles

HGVS Amino-acid Change
NM_000165.5:c.50A= MANE Select NP_000156.1:p.Tyr17=
ENST00000282561.4:c.50A= MANE Select ENSP00000282561.3:p.Tyr17=
NM_000165.4:c.50A= NP_000156.1:p.Tyr17=
ENST00000282561.3:c.50A= ENSP00000282561.3:p.Tyr17=
ENST00000647564.1:c.50A= ENSP00000497565.1:p.Tyr17=
ENST00000649003.1:c.50A= ENSP00000497283.1:p.Tyr17=
ENST00000650427.1:c.50A= ENSP00000497367.1:p.Tyr17=