Canonical Allele Identifier: CA1032344876

Gene: EVA1A

Linked Data

• dbSNP Id: rs1677002668
• gnomAD v3: 2-75565193-C-G
• gnomAD v4: 2-75565193-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75565193C>G , CM000664.2:g.75565193C>G	GRCh38
NC_000002.11:g.75792319C>G , CM000664.1:g.75792319C>G	GRCh37
NC_000002.10:g.75645827C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233712.5:c.-192+4283G>C	ENSP00000233712.1:n.-192+4283G>C
ENST00000486696.1:n.223+4283G>C
NM_032181.2:c.-192+4283G>C	NP_115557.1:n.-192+4283G>C
NM_032181.3:c.-192+4283G>C	NP_115557.1:n.-192+4283G>C