Canonical Allele Identifier: CA1261943398
Gene: EVA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75564835C= , CM000664.2:g.75564835C= GRCh38
NC_000002.11:g.75791961C= , CM000664.1:g.75791961C= GRCh37
NC_000002.10:g.75645469C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4641G= ENSP00000233712.1:n.-192+4641G=
ENST00000486696.1:n.223+4641G=
NM_032181.2:c.-192+4641G= NP_115557.1:n.-192+4641G=
NM_032181.3:c.-192+4641G= NP_115557.1:n.-192+4641G=