Canonical Allele Identifier: CA1261943535
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1677003631

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565234G>T , CM000664.2:g.75565234G>T GRCh38
NC_000002.11:g.75792360G>T , CM000664.1:g.75792360G>T GRCh37
NC_000002.10:g.75645868G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4242C>A ENSP00000233712.1:n.-192+4242C>A
ENST00000486696.1:n.223+4242C>A
NM_032181.2:c.-192+4242C>A NP_115557.1:n.-192+4242C>A
NM_032181.3:c.-192+4242C>A NP_115557.1:n.-192+4242C>A