Canonical Allele Identifier: CA1261943515
Gene: EVA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565192A= , CM000664.2:g.75565192A= GRCh38
NC_000002.11:g.75792318A= , CM000664.1:g.75792318A= GRCh37
NC_000002.10:g.75645826A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4284T= ENSP00000233712.1:n.-192+4284T=
ENST00000486696.1:n.223+4284T=
NM_032181.2:c.-192+4284T= NP_115557.1:n.-192+4284T=
NM_032181.3:c.-192+4284T= NP_115557.1:n.-192+4284T=