Canonical Allele Identifier: CA342223646
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908194T>C , CM000663.2:g.147908194T>C GRCh38
NC_000001.10:g.147380321T>C , CM000663.1:g.147380321T>C GRCh37
NC_000001.9:g.145846945T>C NCBI36
NG_016242.1:g.10376T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.239T>C MANE Select ENSP00000358238.1:p.Leu80Pro
ENST00000369235.1:c.239T>C ENSP00000358238.1:p.Leu80Pro
NM_005267.4:c.239T>C NP_005258.2:p.Leu80Pro
XM_011509416.1:c.239T>C XP_011507718.1:p.Leu80Pro
XM_011509417.1:c.239T>C XP_011507719.1:p.Leu80Pro
XM_011509417.2:c.239T>C XP_011507719.1:p.Leu80Pro
XR_002956281.1:n.1154T>C
NM_005267.5:c.239T>C MANE Select NP_005258.2:p.Leu80Pro