Canonical Allele Identifier: CA420606863
Gene: GJA8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.147380340C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908213C>T , CM000663.2:g.147908213C>T GRCh38
NC_000001.10:g.147380340C>T , CM000663.1:g.147380340C>T GRCh37
NC_000001.9:g.145846964C>T NCBI36
NG_016242.1:g.10395C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.258C>T MANE Select ENSP00000358238.1:p.Ser86=
ENST00000369235.1:c.258C>T ENSP00000358238.1:p.Ser86=
NM_005267.4:c.258C>T NP_005258.2:p.Ser86=
XM_011509416.1:c.258C>T XP_011507718.1:p.Ser86=
XM_011509417.1:c.258C>T XP_011507719.1:p.Ser86=
XM_011509417.2:c.258C>T XP_011507719.1:p.Ser86=
XR_002956281.1:n.1173C>T
NM_005267.5:c.258C>T MANE Select NP_005258.2:p.Ser86=