Canonical Allele Identifier: CA339320177
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.35259869A>T (hg19) chr1:g.34794268A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794268A>T , CM000663.2:g.34794268A>T GRCh38
NC_000001.10:g.35259869A>T , CM000663.1:g.35259869A>T GRCh37
NC_000001.9:g.35032456A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.55A>T (GJA4) MANE Select ENSP00000343676.4:p.Thr19Ser
ENST00000342280.4:c.55A>T (GJA4) ENSP00000343676.4:p.Thr19Ser
ENST00000426886.1:c.207+61503T>A (SMIM12) ENSP00000429902.1:n.207+61503T>A
ENST00000450137.1:c.55A>T (GJA4) ENSP00000409186.1:p.Thr19Ser
NM_002060.2:c.55A>T (GJA4) NP_002051.2:p.Thr19Ser
XM_005270750.1:c.55A>T (GJA4) XP_005270807.1:p.Thr19Ser
XR_947179.1:n.1001+4103T>A
XM_005270750.2:c.55A>T (GJA4) XP_005270807.1:p.Thr19Ser
XM_017001043.2:c.55A>T (GJA4) XP_016856532.1:p.Thr19Ser
XR_001737967.1:n.1023+4103T>A
NM_002060.3:c.55A>T (GJA4) MANE Select NP_002051.2:p.Thr19Ser
Search 100 bp 5'
Search 100 bp 3'