Canonical Allele Identifier: CA342223082
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs1651873035

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908046A>C , CM000663.2:g.147908046A>C GRCh38
NC_000001.10:g.147380173A>C , CM000663.1:g.147380173A>C GRCh37
NC_000001.9:g.145846797A>C NCBI36
NG_016242.1:g.10228A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.91A>C MANE Select ENSP00000358238.1:p.Ile31Leu
ENST00000369235.1:c.91A>C ENSP00000358238.1:p.Ile31Leu
NM_005267.4:c.91A>C NP_005258.2:p.Ile31Leu
XM_011509416.1:c.91A>C XP_011507718.1:p.Ile31Leu
XM_011509417.1:c.91A>C XP_011507719.1:p.Ile31Leu
XM_011509417.2:c.91A>C XP_011507719.1:p.Ile31Leu
XR_002956281.1:n.1006A>C
NM_005267.5:c.91A>C MANE Select NP_005258.2:p.Ile31Leu