Canonical Allele Identifier: CA1032344821
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1676997619
gnomAD v3: 2-75564917-C-G
gnomAD v4: 2-75564917-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75564917C>G , CM000664.2:g.75564917C>G GRCh38
NC_000002.11:g.75792043C>G , CM000664.1:g.75792043C>G GRCh37
NC_000002.10:g.75645551C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000233712.5:c.-192+4559G>C ENSP00000233712.1:n.-192+4559G>C
ENST00000486696.1:n.223+4559G>C
NM_032181.2:c.-192+4559G>C NP_115557.1:n.-192+4559G>C
NM_032181.3:c.-192+4559G>C NP_115557.1:n.-192+4559G>C
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