Canonical Allele Identifier: CA50607899
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs911851274
gnomAD v2: 2-75792266-C-T
gnomAD v3: 2-75565140-C-T
gnomAD v4: 2-75565140-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565140C>T , CM000664.2:g.75565140C>T GRCh38
NC_000002.11:g.75792266C>T , CM000664.1:g.75792266C>T GRCh37
NC_000002.10:g.75645774C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4336G>A ENSP00000233712.1:n.-192+4336G>A
ENST00000486696.1:n.223+4336G>A
NM_032181.2:c.-192+4336G>A NP_115557.1:n.-192+4336G>A
NM_032181.3:c.-192+4336G>A NP_115557.1:n.-192+4336G>A