Canonical Allele Identifier: CA342222949
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908013G>T , CM000663.2:g.147908013G>T GRCh38
NC_000001.10:g.147380140G>T , CM000663.1:g.147380140G>T GRCh37
NC_000001.9:g.145846764G>T NCBI36
NG_016242.1:g.10195G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.58G>T MANE Select ENSP00000358238.1:p.Val20Phe
ENST00000369235.1:c.58G>T ENSP00000358238.1:p.Val20Phe
NM_005267.4:c.58G>T NP_005258.2:p.Val20Phe
XM_011509416.1:c.58G>T XP_011507718.1:p.Val20Phe
XM_011509417.1:c.58G>T XP_011507719.1:p.Val20Phe
XM_011509417.2:c.58G>T XP_011507719.1:p.Val20Phe
XR_002956281.1:n.973G>T
NM_005267.5:c.58G>T MANE Select NP_005258.2:p.Val20Phe