Canonical Allele Identifier: CA483155199
Gene: GJA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20142394G>A , CM000675.2:g.20142394G>A GRCh38
NC_000013.10:g.20716533G>A , CM000675.1:g.20716533G>A GRCh37
NC_000013.9:g.19614533G>A NCBI36
NG_016399.1:g.23651C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.895C>T MANE Select ENSP00000241125.3:p.Leu299=
ENST00000241125.3:c.895C>T ENSP00000241125.3:p.Leu299=
NM_021954.3:c.895C>T NP_068773.2:p.Leu299=
XM_005266353.1:c.895C>T XP_005266410.1:p.Leu299=
XM_011535048.1:c.895C>T XP_011533350.1:p.Leu299=
XM_011535048.2:c.895C>T XP_011533350.1:p.Leu299=
NM_021954.4:c.895C>T MANE Select NP_068773.2:p.Leu299=