Canonical Allele Identifier: CA1261943488
Gene: EVA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565111A= , CM000664.2:g.75565111A= GRCh38
NC_000002.11:g.75792237A= , CM000664.1:g.75792237A= GRCh37
NC_000002.10:g.75645745A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4365T= ENSP00000233712.1:n.-192+4365T=
ENST00000486696.1:n.223+4365T=
NM_032181.2:c.-192+4365T= NP_115557.1:n.-192+4365T=
NM_032181.3:c.-192+4365T= NP_115557.1:n.-192+4365T=