Canonical Allele Identifier: CA11118667
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs17011478
gnomAD v2: 2-75792143-C-T
gnomAD v3: 2-75565017-C-T
gnomAD v4: 2-75565017-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565017C>T , CM000664.2:g.75565017C>T GRCh38
NC_000002.11:g.75792143C>T , CM000664.1:g.75792143C>T GRCh37
NC_000002.10:g.75645651C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000233712.5:c.-192+4459G>A ENSP00000233712.1:n.-192+4459G>A
ENST00000486696.1:n.223+4459G>A
NM_032181.2:c.-192+4459G>A NP_115557.1:n.-192+4459G>A
NM_032181.3:c.-192+4459G>A NP_115557.1:n.-192+4459G>A