Canonical Allele Identifier: CA1261943489
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1677001161

Genomic Alleles

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

Transcript Alleles

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