Canonical Allele Identifier: CA893042916
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1243111926
gnomAD v3: 2-75565000-T-C
gnomAD v4: 2-75565000-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565000T>C , CM000664.2:g.75565000T>C GRCh38
NC_000002.11:g.75792126T>C , CM000664.1:g.75792126T>C GRCh37
NC_000002.10:g.75645634T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000233712.5:c.-192+4476A>G ENSP00000233712.1:n.-192+4476A>G
ENST00000486696.1:n.223+4476A>G
NM_032181.2:c.-192+4476A>G NP_115557.1:n.-192+4476A>G
NM_032181.3:c.-192+4476A>G NP_115557.1:n.-192+4476A>G