Canonical Allele Identifier: CA339329968

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34795175G>A , CM000663.2:g.34795175G>A GRCh38
NC_000001.10:g.35260776G>A , CM000663.1:g.35260776G>A GRCh37
NC_000001.9:g.35033363G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000342280.5:c.962G>A (GJA4) MANE Select ENSP00000343676.4:p.Ser321Asn
ENST00000342280.4:c.962G>A (GJA4) ENSP00000343676.4:p.Ser321Asn
ENST00000426886.1:c.207+60596C>T (SMIM12) ENSP00000429902.1:n.207+60596C>T
NM_002060.2:c.962G>A (GJA4) NP_002051.2:p.Ser321Asn
XM_005270750.1:c.962G>A (GJA4) XP_005270807.1:p.Ser321Asn
XR_947179.1:n.1001+3196C>T
XM_005270750.2:c.962G>A (GJA4) XP_005270807.1:p.Ser321Asn
XM_017001043.2:c.962G>A (GJA4) XP_016856532.1:p.Ser321Asn
XR_001737967.1:n.1023+3196C>T
NM_002060.3:c.962G>A (GJA4) MANE Select NP_002051.2:p.Ser321Asn