Canonical Allele Identifier: CA2750523888

Gene: EVA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75564900A>G , CM000664.2:g.75564900A>G	GRCh38
NC_000002.11:g.75792026A>G , CM000664.1:g.75792026A>G	GRCh37
NC_000002.10:g.75645534A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233712.5:c.-192+4576T>C	ENSP00000233712.1:n.-192+4576T>C
ENST00000486696.1:n.223+4576T>C
NM_032181.2:c.-192+4576T>C	NP_115557.1:n.-192+4576T>C
NM_032181.3:c.-192+4576T>C	NP_115557.1:n.-192+4576T>C